Canonical Allele Identifier: CA115191
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794
ClinVar RCV Id: RCV000001867
dbSNP Id: rs104894149

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102832611G>A , CM000672.2:g.102832611G>A GRCh38
NC_000010.10:g.104592368G>A , CM000672.1:g.104592368G>A GRCh37
NC_000010.9:g.104582358G>A NCBI36
NG_007955.1:g.9923C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369887.4:c.1039C>T MANE Select ENSP00000358903.3:p.Arg347Cys
ENST00000638190.1:c.736C>T ENSP00000492539.1:p.Arg246Cys
ENST00000638272.1:c.583C>T ENSP00000491508.1:p.Arg195Cys
ENST00000638971.1:c.952C>T ENSP00000492313.1:p.Arg318Cys
ENST00000639393.1:c.1039C>T ENSP00000492651.1:p.Arg347Cys
ENST00000640633.1:n.801C>T
ENST00000647664.1:c.*1642G>A ENSP00000498131.1:p.=
ENST00000369887.3:c.1039C>T ENSP00000358903.3:p.Arg347Cys
NM_000102.3:c.1039C>T NP_000093.1:p.Arg347Cys
NM_000102.4:c.1039C>T MANE Select NP_000093.1:p.Arg347Cys