Canonical Allele Identifier: CA212294365

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 755109
• ClinVar RCV Id: RCV000932485
• dbSNP Id: rs529909202
• gnomAD v2: 10-104594968-T-G
• gnomAD v4: 10-102835211-T-G
• MyVariant Identifiers: chr10:g.104594968T>G (hg19) ; chr10:g.102835211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102835211T>G , CM000672.2:g.102835211T>G	GRCh38
NC_000010.10:g.104594968T>G , CM000672.1:g.104594968T>G	GRCh37
NC_000010.9:g.104584958T>G	NCBI36
NG_007955.1:g.7323A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.436+43A>C MANE Select	ENSP00000358903.3:n.436+43A>C
ENST00000638190.1:c.436+43A>C	ENSP00000492539.1:n.436+43A>C
ENST00000638272.1:c.297+1854A>C	ENSP00000491508.1:n.297+1854A>C
ENST00000638971.1:c.436+43A>C	ENSP00000492313.1:n.436+43A>C
ENST00000639393.1:c.436+43A>C	ENSP00000492651.1:n.436+43A>C
ENST00000640633.1:n.198+43A>C
ENST00000369887.3:c.436+43A>C	ENSP00000358903.3:n.436+43A>C
ENST00000489268.1:n.690+43A>C
NM_000102.3:c.436+43A>C	NP_000093.1:n.436+43A>C
NM_000102.4:c.436+43A>C MANE Select	NP_000093.1:n.436+43A>C