Linked Data
ClinVar Variation Id:
1094826
ClinVar RCV Id:
RCV001415496
dbSNP Id:
rs758294215
gnomAD v4:
10-102830789-G-A
MyVariant Identifiers:
chr10:g.104590546G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830789G>A , CM000672.2:g.102830789G>A | GRCh38 |
| NC_000010.10:g.104590546G>A , CM000672.1:g.104590546G>A | GRCh37 |
| NC_000010.9:g.104580536G>A | NCBI36 |
| NG_007955.1:g.11745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1440C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro480= | |
| ENST00000638190.1:c.1137C>T (CYP17A1) | ENSP00000492539.1:p.Pro379= | |
| ENST00000638272.1:c.984C>T (CYP17A1) | ENSP00000491508.1:p.Pro328= | |
| ENST00000638971.1:c.1353C>T (CYP17A1) | ENSP00000492313.1:p.Pro451= | |
| ENST00000639393.1:c.1443C>T (CYP17A1) | ENSP00000492651.1:p.Pro481= | |
| ENST00000640633.1:n.1202C>T (CYP17A1) | ||
| ENST00000647664.1:c.*471G>A (WBP1L) | ENSP00000498131.1:n.*471G>A | |
| ENST00000369887.3:c.1440C>T (CYP17A1) | ENSP00000358903.3:p.Pro480= | |
| NM_000102.3:c.1440C>T (CYP17A1) | NP_000093.1:p.Pro480= | |
| NM_000102.4:c.1440C>T (CYP17A1) MANE Select | NP_000093.1:p.Pro480= |