Canonical Allele Identifier: CA5669641
Gene: CYP17A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 298625
dbSNP Id: rs6162

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102837224G>A , CM000672.2:g.102837224G>A GRCh38
NC_000010.10:g.104596981G>A , CM000672.1:g.104596981G>A GRCh37
NC_000010.9:g.104586971G>A NCBI36
NG_007955.1:g.5310C>T

Transcript Alleles

HGVS Amino-acid change
NM_000102.3:c.138C>T VV NP_000093.1:p.His46=
NM_000102.4:c.138C>T VV MANE Preferred NP_000093.1:p.His46=
ENST00000369887.3:c.138C>T ENSP00000358903.3:p.His46=
ENST00000489268.1:n.191C>T