Canonical Allele Identifier: CA471297347

Gene: CYP17A1

Linked Data

• dbSNP Id: rs1226517775
• gnomAD v4: 10-102834809-C-T
• MyVariant Identifiers: chr10:g.104594566C>T (hg19) ; chr10:g.102834809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102834809C>T , CM000672.2:g.102834809C>T	GRCh38
NC_000010.10:g.104594566C>T , CM000672.1:g.104594566C>T	GRCh37
NC_000010.9:g.104584556C>T	NCBI36
NG_007955.1:g.7725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.642G>A MANE Select	ENSP00000358903.3:p.Leu214=
ENST00000638190.1:c.642G>A	ENSP00000492539.1:p.Leu214=
ENST00000638272.1:c.298-1601G>A	ENSP00000491508.1:n.298-1601G>A
ENST00000638971.1:c.642G>A	ENSP00000492313.1:p.Leu214=
ENST00000639393.1:c.642G>A	ENSP00000492651.1:p.Leu214=
ENST00000640633.1:n.404G>A
ENST00000369887.3:c.642G>A	ENSP00000358903.3:p.Leu214=
ENST00000489268.1:n.896G>A
NM_000102.3:c.642G>A	NP_000093.1:p.Leu214=
NM_000102.4:c.642G>A MANE Select	NP_000093.1:p.Leu214=