Canonical Allele Identifier: CA471298455

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 3023626
• ClinVar RCV Id: RCV003880721
• dbSNP Id: rs1844148294
• gnomAD v3: 10-102835363-A-C
• gnomAD v4: 10-102835363-A-C
• MyVariant Identifiers: chr10:g.104595120A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102835363A>C , CM000672.2:g.102835363A>C	GRCh38
NC_000010.10:g.104595120A>C , CM000672.1:g.104595120A>C	GRCh37
NC_000010.9:g.104585110A>C	NCBI36
NG_007955.1:g.7171T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.327T>G MANE Select	ENSP00000358903.3:p.Arg109=
ENST00000638190.1:c.327T>G	ENSP00000492539.1:p.Arg109=
ENST00000638272.1:c.297+1702T>G	ENSP00000491508.1:n.297+1702T>G
ENST00000638971.1:c.327T>G	ENSP00000492313.1:p.Arg109=
ENST00000639393.1:c.327T>G	ENSP00000492651.1:p.Arg109=
ENST00000640633.1:n.89T>G
ENST00000369887.3:c.327T>G	ENSP00000358903.3:p.Arg109=
ENST00000489268.1:n.581T>G
NM_000102.3:c.327T>G	NP_000093.1:p.Arg109=
NM_000102.4:c.327T>G MANE Select	NP_000093.1:p.Arg109=