Linked Data
ClinVar Variation Id:
1539969
ClinVar RCV Id:
RCV002154843
dbSNP Id:
rs1320132220
gnomAD v4:
10-102832537-G-A
MyVariant Identifiers:
chr10:g.104592294G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832537G>A , CM000672.2:g.102832537G>A | GRCh38 |
| NC_000010.10:g.104592294G>A , CM000672.1:g.104592294G>A | GRCh37 |
| NC_000010.9:g.104582284G>A | NCBI36 |
| NG_007955.1:g.9997C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1113C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Ile371= | |
| ENST00000638190.1:c.810C>T (CYP17A1) | ENSP00000492539.1:p.Ile270= | |
| ENST00000638272.1:c.657C>T (CYP17A1) | ENSP00000491508.1:p.Ile219= | |
| ENST00000638971.1:c.1026C>T (CYP17A1) | ENSP00000492313.1:p.Ile342= | |
| ENST00000639393.1:c.1113C>T (CYP17A1) | ENSP00000492651.1:p.Ile371= | |
| ENST00000640633.1:n.875C>T (CYP17A1) | ||
| ENST00000647664.1:c.*1568G>A (WBP1L) | ENSP00000498131.1:n.*1568G>A | |
| ENST00000369887.3:c.1113C>T (CYP17A1) | ENSP00000358903.3:p.Ile371= | |
| NM_000102.3:c.1113C>T (CYP17A1) | NP_000093.1:p.Ile371= | |
| NM_000102.4:c.1113C>T (CYP17A1) MANE Select | NP_000093.1:p.Ile371= |