Canonical Allele Identifier: CA5669514

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 1113477
• ClinVar RCV Id: RCV001440871 ; RCV002495616
• dbSNP Id: rs375350911
• ExAC: 10:104594554 G / A
• gnomAD v2: 10-104594554-G-A
• gnomAD v3: 10-102834797-G-A
• gnomAD v4: 10-102834797-G-A
• MyVariant Identifiers: chr10:g.104594554G>A (hg19) ; chr10:g.102834797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102834797G>A , CM000672.2:g.102834797G>A	GRCh38
NC_000010.10:g.104594554G>A , CM000672.1:g.104594554G>A	GRCh37
NC_000010.9:g.104584544G>A	NCBI36
NG_007955.1:g.7737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.654C>T MANE Select	ENSP00000358903.3:p.Val218=
ENST00000638190.1:c.654C>T	ENSP00000492539.1:p.Val218=
ENST00000638272.1:c.298-1589C>T	ENSP00000491508.1:n.298-1589C>T
ENST00000638971.1:c.654C>T	ENSP00000492313.1:p.Val218=
ENST00000639393.1:c.654C>T	ENSP00000492651.1:p.Val218=
ENST00000640633.1:n.416C>T
ENST00000369887.3:c.654C>T	ENSP00000358903.3:p.Val218=
ENST00000489268.1:n.908C>T
NM_000102.3:c.654C>T	NP_000093.1:p.Val218=
NM_000102.4:c.654C>T MANE Select	NP_000093.1:p.Val218=