Canonical Allele Identifier: CA5669595
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1080608
ClinVar RCV Id: RCV001396321
dbSNP Id: rs777937209
COSMIC: COSM914266

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835378G>A , CM000672.2:g.102835378G>A GRCh38
NC_000010.10:g.104595135G>A , CM000672.1:g.104595135G>A GRCh37
NC_000010.9:g.104585125G>A NCBI36
NG_007955.1:g.7156C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369887.4:c.312C>T MANE Select ENSP00000358903.3:p.Ile104=
ENST00000638190.1:c.312C>T ENSP00000492539.1:p.Ile104=
ENST00000638272.1:c.297+1687C>T ENSP00000491508.1:n.297+1687C>T
ENST00000638971.1:c.312C>T ENSP00000492313.1:p.Ile104=
ENST00000639393.1:c.312C>T ENSP00000492651.1:p.Ile104=
ENST00000640633.1:n.74C>T
ENST00000369887.3:c.312C>T ENSP00000358903.3:p.Ile104=
ENST00000489268.1:n.566C>T
NM_000102.3:c.312C>T NP_000093.1:p.Ile104=
NM_000102.4:c.312C>T MANE Select NP_000093.1:p.Ile104=