Canonical Allele Identifier: CA5669490

Gene: CYP17A1 CYP17A1-AS1

Linked Data

• ClinVar Variation Id: 2439628
• ClinVar RCV Id: RCV003143879
• dbSNP Id: rs773278607
• ExAC: 10:104593830 C / T
• gnomAD v2: 10-104593830-C-T
• gnomAD v3: 10-102834073-C-T
• gnomAD v4: 10-102834073-C-T
• MyVariant Identifiers: chr10:g.104593830C>T (hg19) ; chr10:g.102834073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102834073C>T , CM000672.2:g.102834073C>T	GRCh38
NC_000010.10:g.104593830C>T , CM000672.1:g.104593830C>T	GRCh37
NC_000010.9:g.104583820C>T	NCBI36
NG_007955.1:g.8461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369884.4:n.152-104C>T
ENST00000369887.4:c.716G>A (CYP17A1) MANE Select	ENSP00000358903.3:p.Arg239Gln
ENST00000638190.1:c.666+712G>A (CYP17A1)	ENSP00000492539.1:n.666+712G>A
ENST00000638272.1:c.298-865G>A (CYP17A1)	ENSP00000491508.1:n.298-865G>A
ENST00000638971.1:c.666+712G>A (CYP17A1)	ENSP00000492313.1:n.666+712G>A
ENST00000639393.1:c.716G>A (CYP17A1)	ENSP00000492651.1:p.Arg239Gln
ENST00000640633.1:n.478G>A (CYP17A1)
ENST00000369887.3:c.716G>A (CYP17A1)	ENSP00000358903.3:p.Arg239Gln
ENST00000489268.1:n.1632G>A (CYP17A1)
NM_000102.3:c.716G>A (CYP17A1)	NP_000093.1:p.Arg239Gln
XR_428804.1:n.206-104C>T (CYP17A1-AS1)
NM_000102.4:c.716G>A (CYP17A1) MANE Select	NP_000093.1:p.Arg239Gln