Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 84968 |
| ensemblid | ENSG00000235961.6 |
| hgncid | 28248 |
| symbol | PNMA6A |
| name | PNMA family member 6A |
| refseq_nuc | NM_032882.6 |
| refseq_prot | NP_116271.3 |
| ensembl_nuc | ENST00000421798.5 |
| ensembl_prot | ENSP00000391488.3 |
| mane_status | MANE Select |
| chr | chrX |
| start | 153072454 |
| end | 153075019 |
| strand | + |
| ver | v1.2 |
| region | chrX:153072454-153075019 |
| region5000 | chrX:153067454-153080019 |
| regionname0 | PNMA6A_chrX_153072454_153075019 |
| regionname5000 | PNMA6A_chrX_153067454_153080019 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 399 | 37 | 9 | 6 | 9 | 4 | 7 | 7 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(394): Show |
chrX | 153067454 | 153080019 |
| a0002 | 0/0 | 399 | 28 | 2 | 5 | 20 | 0 | 1 | 12 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(394): Show |
chrX | 153067454 | 153080019 |
| a0003 | 0/0 | 399 | 7 | 1 | 0 | 6 | 0 | 0 | 4 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(394): Show |
chrX | 153067454 | 153080019 |
| a0004 | 0/0 | 382 | 6 | 2 | 1 | 2 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(377): Show |
chrX | 153067454 | 153080019 |
| a0005 | 0/0 | 382 | 5 | 0 | 1 | 4 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(377): Show |
chrX | 153067454 | 153080019 |
| a0006 | 0/0 | 399 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(394): Show |
chrX | 153067454 | 153080019 |
| a0007 | 0/0 | 399 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(394): Show |
chrX | 153067454 | 153080019 |
| a0008 | 0/0 | 399 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | MAVTM others(394): Show |
chrX | 153067454 | 153080019 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 1197 | 29 | 8 | 4 | 8 | 3 | 5 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0001c0003 | 0/1 | 1197 | 7 | 1 | 1 | 1 | 1 | 2 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0001c0008 | 0/0 | 1197 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0002c0002 | 0/0 | 1197 | 26 | 0 | 5 | 20 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0002c0007 | 0/0 | 1197 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0003c0004 | 0/0 | 1197 | 7 | 1 | 0 | 6 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0004c0005 | 0/0 | 1198 | 6 | 2 | 1 | 2 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1193): Show |
chrX | 153067454 | 153080019 | ||
| a0005c0006 | 0/0 | 1198 | 4 | 0 | 0 | 4 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1193): Show |
chrX | 153067454 | 153080019 | ||
| a0005c0012 | 0/0 | 1198 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1193): Show |
chrX | 153067454 | 153080019 | ||
| a0006c0011 | 0/0 | 1197 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0007c0010 | 0/0 | 1197 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 | ||
| a0008c0009 | 0/0 | 1197 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | ATGGC others(1192): Show |
chrX | 153067454 | 153080019 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 2238 | 21 | 7 | 3 | 5 | 2 | 3 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0001c0001t0003 | 0/0 | 2238 | 4 | 0 | 0 | 3 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0001c0001t0006 | 0/0 | 2238 | 2 | 0 | 1 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0001c0001t0017 | 0/0 | 2237 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2232): Show |
chrX | 153067454 | 153080019 |
| a0001c0001t0021 | 0/0 | 2238 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0001c0003t0001 | 0/0 | 2238 | 5 | 1 | 1 | 1 | 1 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0001c0003t0008 | 0/0 | 2239 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0001c0003t0012 | 0/1 | 2238 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0001c0008t0006 | 0/0 | 2238 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0002 | 0/0 | 2238 | 17 | 0 | 4 | 13 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0004 | 0/0 | 2238 | 2 | 0 | 0 | 1 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0007 | 0/0 | 2239 | 2 | 0 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0014 | 0/0 | 2238 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0015 | 0/0 | 2239 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0016 | 0/0 | 2239 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0019 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0002c0002t0020 | 0/0 | 2238 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0002c0007t0005 | 0/0 | 2238 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0003c0004t0003 | 0/0 | 2238 | 5 | 0 | 0 | 5 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0003c0004t0013 | 0/0 | 2238 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0003c0004t0018 | 0/0 | 2237 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2232): Show |
chrX | 153067454 | 153080019 |
| a0004c0005t0001 | 0/0 | 2239 | 4 | 2 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0004c0005t0003 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0004c0005t0008 | 0/0 | 2240 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2235): Show |
chrX | 153067454 | 153080019 |
| a0005c0006t0002 | 0/0 | 2239 | 2 | 0 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0005c0006t0004 | 0/0 | 2239 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0005c0006t0009 | 0/0 | 2240 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2235): Show |
chrX | 153067454 | 153080019 |
| a0005c0012t0005 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0006c0011t0011 | 0/0 | 2239 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2234): Show |
chrX | 153067454 | 153080019 |
| a0007c0010t0010 | 0/0 | 2238 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| a0008c0009t0001 | 0/0 | 2238 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | CCAAA others(2233): Show |
chrX | 153067454 | 153080019 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 20 | 7 | 3 | 4 | 2 | 3 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0001t0003g0001 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0001t0003g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0001t0006g0001 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0001t0017g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0001t0021g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0003t0001g0001 | 0/0 | 5 | 1 | 1 | 1 | 1 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0003t0008g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0003t0012g0001 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0001c0008t0006g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0002g0001 | 0/0 | 17 | 0 | 4 | 13 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0004g0001 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0007g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0014g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0015g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0016g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0019g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0002t0020g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0002c0007t0005g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0003c0004t0003g0001 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0003c0004t0013g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0003c0004t0018g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0004c0005t0001g0001 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0004c0005t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0004c0005t0003g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0004c0005t0008g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0005c0006t0002g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0005c0006t0004g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0005c0006t0009g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0005c0012t0005g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0006c0011t0011g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0007c0010t0010g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| a0008c0009t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00099 | hp2 | a0001 | c0001 | t0006 | g0001 | EUR | GBR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00438 | hp1 | a0004 | c0005 | t0001 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00438 | hp2 | a0005 | c0006 | t0002 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00544 | hp2 | a0004 | c0005 | t0001 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00609 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00621 | hp1 | a0003 | c0004 | t0003 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00673 | hp1 | a0005 | c0006 | t0002 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00735 | hp1 | a0004 | c0005 | t0003 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG00735 | hp2 | a0005 | c0012 | t0005 | g0002 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01106 | hp1 | a0001 | c0008 | t0006 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01169 | hp1 | a0001 | c0003 | t0001 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01258 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | CLM | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01358 | hp1 | a0001 | c0001 | t0006 | g0001 | AMR | CLM | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01934 | hp1 | a0002 | c0002 | t0019 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01978 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG01978 | hp2 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02027 | hp1 | a0002 | c0002 | t0015 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02040 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02056 | hp1 | a0002 | c0002 | t0007 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02071 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02080 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02080 | hp2 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02129 | hp1 | a0005 | c0006 | t0004 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02132 | hp1 | a0003 | c0004 | t0003 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02135 | hp1 | a0001 | c0003 | t0001 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02300 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02622 | hp2 | a0004 | c0005 | t0001 | g0007 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02647 | hp1 | a0004 | c0005 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02896 | hp1 | a0001 | c0001 | t0017 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02896 | hp2 | a0007 | c0010 | t0010 | g0006 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03098 | hp1 | a0002 | c0007 | t0005 | g0002 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03492 | hp1 | a0004 | c0005 | t0008 | g0001 | SAS | PJL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03710 | hp1 | a0001 | c0001 | t0003 | g0001 | SAS | PJL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03834 | hp1 | a0001 | c0003 | t0001 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03834 | hp2 | a0001 | c0001 | t0021 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG04115 | hp1 | a0001 | c0003 | t0008 | g0001 | SAS | STU | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG04184 | hp1 | a0002 | c0002 | t0004 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG04184 | hp2 | a0008 | c0009 | t0001 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18747 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | CHB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18943 | hp1 | a0003 | c0004 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18959 | hp1 | a0001 | c0001 | t0003 | g0004 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18962 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18966 | hp1 | a0002 | c0002 | t0016 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18970 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18974 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18977 | hp1 | a0002 | c0002 | t0014 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18980 | hp1 | a0002 | c0002 | t0004 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18980 | hp2 | a0003 | c0004 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18982 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18984 | hp1 | a0002 | c0002 | t0020 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18986 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18988 | hp1 | a0003 | c0004 | t0018 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA18990 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19000 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19007 | hp1 | a0003 | c0004 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19056 | hp1 | a0002 | c0002 | t0007 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19060 | hp2 | a0005 | c0006 | t0009 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19067 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA19091 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA20752 | hp1 | a0001 | c0003 | t0001 | g0001 | EUR | TSI | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02486 | hp1 | a0002 | c0007 | t0005 | g0002 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02559 | hp1 | a0001 | c0003 | t0001 | g0001 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG02559 | hp2 | a0006 | c0011 | t0011 | g0002 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| HG03471 | hp1 | a0003 | c0004 | t0013 | g0003 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| homoSapiens | chm13v2 | a0001 | c0003 | t0012 | g0001 | REF | REF | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:153073226 | C | T | 5 | a0002 a0003 a0005 others(2): Show |
42 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(39): Show |
missense_variant | MODERATE | c.164C>T | p.Ala55Val | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 445/2238 | 164/1200 | 55/399 | chrX | 153073226 | |||
| chrX:153073397 | C | T | 1 | a0008 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.335C>T | p.Pro112Leu | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 616/2238 | 335/1200 | 112/399 | chrX | 153073397 | |||
| chrX:153073447 | G | A | 1 | a0006 | 1 | HG02559.hp2 | missense_variant | MODERATE | c.385G>A | p.Gly129Arg | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 666/2238 | 385/1200 | 129/399 | chrX | 153073447 | |||
| chrX:153073517 | G | A | 4 | a0002 a0005 a0006 others(1): Show |
35 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(32): Show |
missense_variant | MODERATE | c.455G>A | p.Cys152Tyr | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 736/2238 | 455/1200 | 152/399 | chrX | 153073517 | |||
| chrX:153073910 | G | A | 1 | a0007 | 1 | HG02896.hp2 | missense_variant | MODERATE | c.848G>A | p.Arg283His | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1129/2238 | 848/1200 | 283/399 | chrX | 153073910 | |||
| chrX:153074147 | C | CG | 2 | a0004 a0005 |
11 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(8): Show |
frameshift_variant | HIGH | c.1087dupG | p.Val363fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1369/2238 | 1088/1200 | 363/399 | INFO_REALIGN_3_PRIME | chrX | 153074147 | ||
| chrX:153074186 | T | G | 4 | a0002 a0005 a0006 others(1): Show |
35 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(32): Show |
missense_variant | MODERATE | c.1124T>G | p.Leu375Arg | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1405/2238 | 1124/1200 | 375/399 | chrX | 153074186 | |||
| chrX:153075016 | TC | T | 2 | a0001 a0003 |
2 | HG02896.hp1 NA18988.hp1 |
splice_region_variant | LOW | c.*756delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | 153075016 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:153073209 | T | C | 1 | a0001c0008 | 1 | HG01106.hp1 | synonymous_variant | LOW | c.147T>C | p.Phe49Phe | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 428/2238 | 147/1200 | 49/399 | chrX | 153073209 | |||
| chrX:153073287 | T | C | 1 | a0007c0010 | 1 | HG02896.hp2 | synonymous_variant | LOW | c.225T>C | p.Tyr75Tyr | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 506/2238 | 225/1200 | 75/399 | chrX | 153073287 | |||
| chrX:153073443 | T | C | 4 | a0002c0007 a0005c0012 a0006c0011 others(1): Show |
5 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
synonymous_variant | LOW | c.381T>C | p.Gly127Gly | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 662/2238 | 381/1200 | 127/399 | chrX | 153073443 | |||
| chrX:153073470 | G | C | 4 | a0002c0007 a0005c0012 a0006c0011 others(1): Show |
5 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
synonymous_variant | LOW | c.408G>C | p.Leu136Leu | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 689/2238 | 408/1200 | 136/399 | chrX | 153073470 | |||
| chrX:153073530 | C | T | 1 | a0001c0003 | 6 | HG01169.hp1 HG02135.hp1 HG02559.hp1 others(3): Show |
synonymous_variant | LOW | c.468C>T | p.Gly156Gly | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 749/2238 | 468/1200 | 156/399 | chrX | 153073530 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:153072524 | A | AC | 2 | a0002c0002t0007 a0005c0006t0009 |
3 | HG02056.hp1 NA19056.hp1 NA19060.hp2 |
5_prime_UTR_variant | MODIFIER | c.-207dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 534 | INFO_REALIGN_3_PRIME | chrX | 153072524 | |||||
| chrX:153072991 | T | A | 6 | a0002c0002t0004 a0002c0007t0005 a0005c0006t0004 others(3): Show |
8 | HG00735.hp2 HG02129.hp1 HG02486.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-72T>A | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 72 | chrX | 153072991 | ||||||
| chrX:153074289 | C | T | 1 | a0001c0001t0021 | 1 | HG03834.hp2 | 3_prime_UTR_variant | MODIFIER | c.*27C>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 27 | chrX | 153074289 | ||||||
| chrX:153074370 | C | T | 1 | a0002c0002t0020 | 1 | NA18984.hp1 | 3_prime_UTR_variant | MODIFIER | c.*108C>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 108 | chrX | 153074370 | ||||||
| chrX:153074439 | C | G | 1 | a0002c0002t0019 | 1 | HG01934.hp1 | 3_prime_UTR_variant | MODIFIER | c.*177C>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 177 | chrX | 153074439 | ||||||
| chrX:153074517 | G | T | 3 | a0002c0007t0005 a0005c0012t0005 a0006c0011t0011 |
4 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*255G>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 255 | chrX | 153074517 | ||||||
| chrX:153074572 | T | C | 1 | a0005c0006t0009 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*310T>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 310 | chrX | 153074572 | ||||||
| chrX:153074576 | G | C | 1 | a0003c0004t0013 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*314G>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 314 | chrX | 153074576 | ||||||
| chrX:153074580 | C | G | 5 | a0001c0001t0003 a0003c0004t0003 a0003c0004t0013 others(2): Show |
12 | HG00621.hp1 HG00735.hp1 HG02132.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*318C>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 318 | chrX | 153074580 | ||||||
| chrX:153074603 | C | T | 4 | a0002c0007t0005 a0005c0012t0005 a0006c0011t0011 others(1): Show |
5 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*341C>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 341 | chrX | 153074603 | ||||||
| chrX:153074687 | G | T | 2 | a0001c0001t0006 a0001c0008t0006 |
3 | HG00099.hp2 HG01106.hp1 HG01358.hp1 |
3_prime_UTR_variant | MODIFIER | c.*425G>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 425 | chrX | 153074687 | ||||||
| chrX:153074812 | T | G | 15 | a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 others(12): Show |
35 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*550T>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 550 | chrX | 153074812 | ||||||
| chrX:153074880 | T | G | 1 | a0002c0002t0014 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*618T>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 618 | chrX | 153074880 | ||||||
| chrX:153074904 | A | AG | 6 | a0001c0003t0008 a0002c0002t0015 a0002c0002t0016 others(3): Show |
6 | HG01934.hp1 HG02027.hp1 HG02559.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*648dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 649 | INFO_REALIGN_3_PRIME | chrX | 153074904 | |||||
| chrX:153074972 | A | T | 1 | a0002c0002t0016 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*710A>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 710 | chrX | 153074972 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:153072626 | A | G | 1 | a0004c0005t0001g0007 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-129+20A>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072626 | |||||||
| chrX:153072646 | G | C | 1 | a0003c0004t0013g0003 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-129+40G>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072646 | |||||||
| chrX:153072705 | C | CGGTCCGG | 3 | a0002c0007t0005g0002 a0005c0012t0005g0002 a0006c0011t0011g0002 |
4 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+130_-129+136d others(9): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072705 | ||||||
| chrX:153072705 | C | CGGTCCGG others(14): Show |
1 | a0007c0010t0010g0006 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-129+116_-129+136d others(23): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072705 | ||||||
| chrX:153072705 | CGGTCCGG others(7): Show |
C | 1 | a0001c0001t0003g0004 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-129+123_-129+136d others(16): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072705 | ||||||
| chrX:153072920 | C | A | 1 | a0001c0001t0001g0005 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-128-15C>A | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072920 |