Canonical Allele Identifier: CA471297628
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1580307
ClinVar RCV Id: RCV002085746
dbSNP Id: rs1333105672

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834911G>A , CM000672.2:g.102834911G>A GRCh38
NC_000010.10:g.104594668G>A , CM000672.1:g.104594668G>A GRCh37
NC_000010.9:g.104584658G>A NCBI36
NG_007955.1:g.7623C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.540C>T MANE Select ENSP00000358903.3:p.Ser180=
ENST00000638190.1:c.540C>T ENSP00000492539.1:p.Ser180=
ENST00000638272.1:c.298-1703C>T ENSP00000491508.1:n.298-1703C>T
ENST00000638971.1:c.540C>T ENSP00000492313.1:p.Ser180=
ENST00000639393.1:c.540C>T ENSP00000492651.1:p.Ser180=
ENST00000640633.1:n.302C>T
ENST00000369887.3:c.540C>T ENSP00000358903.3:p.Ser180=
ENST00000489268.1:n.794C>T
NM_000102.3:c.540C>T NP_000093.1:p.Ser180=
NM_000102.4:c.540C>T MANE Select NP_000093.1:p.Ser180=