Linked Data
ClinVar Variation Id:
1782
dbSNP Id:
rs104894136
gnomAD v2:
10-104593831-G-A
gnomAD v4:
10-102834074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834074G>A , CM000672.2:g.102834074G>A | GRCh38 |
| NC_000010.10:g.104593831G>A , CM000672.1:g.104593831G>A | GRCh37 |
| NC_000010.9:g.104583821G>A | NCBI36 |
| NG_007955.1:g.8460C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369884.4:n.152-103G>A | ||
| ENST00000369887.4:c.715C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg239Ter | |
| ENST00000638190.1:c.666+711C>T (CYP17A1) | ENSP00000492539.1:n.666+711C>T | |
| ENST00000638272.1:c.298-866C>T (CYP17A1) | ENSP00000491508.1:n.298-866C>T | |
| ENST00000638971.1:c.666+711C>T (CYP17A1) | ENSP00000492313.1:n.666+711C>T | |
| ENST00000639393.1:c.715C>T (CYP17A1) | ENSP00000492651.1:p.Arg239Ter | |
| ENST00000640633.1:n.477C>T (CYP17A1) | ||
| ENST00000369887.3:c.715C>T (CYP17A1) | ENSP00000358903.3:p.Arg239Ter | |
| ENST00000489268.1:n.1631C>T (CYP17A1) | ||
| NM_000102.3:c.715C>T (CYP17A1) | NP_000093.1:p.Arg239Ter | |
| XR_428804.1:n.206-103G>A (CYP17A1-AS1) | ||
| NM_000102.4:c.715C>T (CYP17A1) MANE Select | NP_000093.1:p.Arg239Ter |