Canonical Allele Identifier: CA5669518
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298622
ClinVar RCV Id: RCV000392668
dbSNP Id: rs142435666

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834823T>C , CM000672.2:g.102834823T>C GRCh38
NC_000010.10:g.104594580T>C , CM000672.1:g.104594580T>C GRCh37
NC_000010.9:g.104584570T>C NCBI36
NG_007955.1:g.7711A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.628A>G MANE Select ENSP00000358903.3:p.Ser210Gly
ENST00000638190.1:c.628A>G ENSP00000492539.1:p.Ser210Gly
ENST00000638272.1:c.298-1615A>G ENSP00000491508.1:n.298-1615A>G
ENST00000638971.1:c.628A>G ENSP00000492313.1:p.Ser210Gly
ENST00000639393.1:c.628A>G ENSP00000492651.1:p.Ser210Gly
ENST00000640633.1:n.390A>G
ENST00000369887.3:c.628A>G ENSP00000358903.3:p.Ser210Gly
ENST00000489268.1:n.882A>G
NM_000102.3:c.628A>G NP_000093.1:p.Ser210Gly
NM_000102.4:c.628A>G MANE Select NP_000093.1:p.Ser210Gly