Canonical Allele Identifier: CA115190
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1793
ClinVar RCV Id: RCV000001866
dbSNP Id: rs104894148

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835343T>A , CM000672.2:g.102835343T>A GRCh38
NC_000010.10:g.104595100T>A , CM000672.1:g.104595100T>A GRCh37
NC_000010.9:g.104585090T>A NCBI36
NG_007955.1:g.7191A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369887.4:c.347A>T MANE Select ENSP00000358903.3:p.Asp116Val
ENST00000638190.1:c.347A>T ENSP00000492539.1:p.Asp116Val
ENST00000638272.1:c.297+1722A>T ENSP00000491508.1:n.297+1722A>T
ENST00000638971.1:c.347A>T ENSP00000492313.1:p.Asp116Val
ENST00000639393.1:c.347A>T ENSP00000492651.1:p.Asp116Val
ENST00000640633.1:n.109A>T
ENST00000369887.3:c.347A>T ENSP00000358903.3:p.Asp116Val
ENST00000489268.1:n.601A>T
NM_000102.3:c.347A>T NP_000093.1:p.Asp116Val
NM_000102.4:c.347A>T MANE Select NP_000093.1:p.Asp116Val