Linked Data
ClinVar Variation Id:
1066592
dbSNP Id:
rs367833709
ExAC:
10:104591282 G / A
gnomAD v2:
10-104591282-G-A
gnomAD v4:
10-102831525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102831525G>A , CM000672.2:g.102831525G>A | GRCh38 |
| NC_000010.10:g.104591282G>A , CM000672.1:g.104591282G>A | GRCh37 |
| NC_000010.9:g.104581272G>A | NCBI36 |
| NG_007955.1:g.11009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1226C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro409Leu | |
| ENST00000638190.1:c.923C>T (CYP17A1) | ENSP00000492539.1:p.Pro308Leu | |
| ENST00000638272.1:c.770C>T (CYP17A1) | ENSP00000491508.1:p.Pro257Leu | |
| ENST00000638971.1:c.1139C>T (CYP17A1) | ENSP00000492313.1:p.Pro380Leu | |
| ENST00000639393.1:c.1229C>T (CYP17A1) | ENSP00000492651.1:p.Pro410Leu | |
| ENST00000640633.1:n.988C>T (CYP17A1) | ||
| ENST00000647664.1:c.*629-73G>A (WBP1L) | ENSP00000498131.1:n.*629-73G>A | |
| ENST00000369887.3:c.1226C>T (CYP17A1) | ENSP00000358903.3:p.Pro409Leu | |
| ENST00000469683.1:n.179C>T (CYP17A1) | ||
| NM_000102.3:c.1226C>T (CYP17A1) | NP_000093.1:p.Pro409Leu | |
| NM_000102.4:c.1226C>T (CYP17A1) MANE Select | NP_000093.1:p.Pro409Leu |