Canonical Allele Identifier: CA13167480

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 1276128
• ClinVar RCV Id: RCV001694453
• dbSNP Id: rs3781287
• gnomAD v2: 10-104595420-T-G
• gnomAD v3: 10-102835663-T-G
• gnomAD v4: 10-102835663-T-G
• MyVariant Identifiers: chr10:g.104595420T>G (hg19) ; chr10:g.102835663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102835663T>G , CM000672.2:g.102835663T>G	GRCh38
NC_000010.10:g.104595420T>G , CM000672.1:g.104595420T>G	GRCh37
NC_000010.9:g.104585410T>G	NCBI36
NG_007955.1:g.6871A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.298-271A>C MANE Select	ENSP00000358903.3:n.298-271A>C
ENST00000638190.1:c.298-271A>C	ENSP00000492539.1:n.298-271A>C
ENST00000638272.1:c.297+1402A>C	ENSP00000491508.1:n.297+1402A>C
ENST00000638971.1:c.298-271A>C	ENSP00000492313.1:n.298-271A>C
ENST00000639393.1:c.298-271A>C	ENSP00000492651.1:n.298-271A>C
ENST00000640633.1:n.60-271A>C
ENST00000369887.3:c.298-271A>C	ENSP00000358903.3:n.298-271A>C
ENST00000489268.1:n.351-70A>C
NM_000102.3:c.298-271A>C	NP_000093.1:n.298-271A>C
NM_000102.4:c.298-271A>C MANE Select	NP_000093.1:n.298-271A>C