Canonical Allele Identifier: CA115201

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 1803
• ClinVar RCV Id: RCV000001876 ; RCV001826403 ; RCV001376810
• dbSNP Id: rs104894154
• ExAC: 10:104595073 C / T
• gnomAD v2: 10-104595073-C-T
• gnomAD v3: 10-102835316-C-T
• gnomAD v4: 10-102835316-C-T
• COSMIC: COSM1345513
• MyVariant Identifiers: chr10:g.104595073C>T (hg19) ; chr10:g.102835316C>T (hg38)
• PubMed: PMID:16849412

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102835316C>T , CM000672.2:g.102835316C>T	GRCh38
NC_000010.10:g.104595073C>T , CM000672.1:g.104595073C>T	GRCh37
NC_000010.9:g.104585063C>T	NCBI36
NG_007955.1:g.7218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.374G>A MANE Select	ENSP00000358903.3:p.Arg125Gln
ENST00000638190.1:c.374G>A	ENSP00000492539.1:p.Arg125Gln
ENST00000638272.1:c.297+1749G>A	ENSP00000491508.1:n.297+1749G>A
ENST00000638971.1:c.374G>A	ENSP00000492313.1:p.Arg125Gln
ENST00000639393.1:c.374G>A	ENSP00000492651.1:p.Arg125Gln
ENST00000640633.1:n.136G>A
ENST00000369887.3:c.374G>A	ENSP00000358903.3:p.Arg125Gln
ENST00000489268.1:n.628G>A
NM_000102.3:c.374G>A	NP_000093.1:p.Arg125Gln
NM_000102.4:c.374G>A MANE Select	NP_000093.1:p.Arg125Gln