Canonical Allele Identifier: CA5669625

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 991850
• ClinVar RCV Id: RCV001280133
• dbSNP Id: rs370973897
• ExAC: 10:104596884 G / C
• gnomAD v2: 10-104596884-G-C
• gnomAD v3: 10-102837127-G-C
• gnomAD v4: 10-102837127-G-C
• MyVariant Identifiers: chr10:g.104596884G>C (hg19) ; chr10:g.102837127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102837127G>C , CM000672.2:g.102837127G>C	GRCh38
NC_000010.10:g.104596884G>C , CM000672.1:g.104596884G>C	GRCh37
NC_000010.9:g.104586874G>C	NCBI36
NG_007955.1:g.5407C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.235C>G MANE Select	ENSP00000358903.3:p.His79Asp
ENST00000638190.1:c.235C>G	ENSP00000492539.1:p.His79Asp
ENST00000638272.1:c.235C>G	ENSP00000491508.1:p.His79Asp
ENST00000638971.1:c.235C>G	ENSP00000492313.1:p.His79Asp
ENST00000639393.1:c.235C>G	ENSP00000492651.1:p.His79Asp
ENST00000369887.3:c.235C>G	ENSP00000358903.3:p.His79Asp
ENST00000489268.1:n.288C>G
NM_000102.3:c.235C>G	NP_000093.1:p.His79Asp
NM_000102.4:c.235C>G MANE Select	NP_000093.1:p.His79Asp