Canonical Allele Identifier: CA97480754

Gene: SRD5A3

Linked Data

• dbSNP Id: rs571482623
• gnomAD v2: 4-56225756-C-A
• gnomAD v3: 4-55359589-C-A
• gnomAD v4: 4-55359589-C-A
• MyVariant Identifiers: chr4:g.56225756C>A (hg19) ; chr4:g.55359589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359589C>A , CM000666.2:g.55359589C>A	GRCh38
NC_000004.11:g.56225756C>A , CM000666.1:g.56225756C>A	GRCh37
NC_000004.10:g.55920513C>A	NCBI36
NG_028230.1:g.18369C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.364+101C>A MANE Select	ENSP00000264228.4:n.364+101C>A
ENST00000677177.2:c.77+101C>A
ENST00000678717.1:n.261+101C>A
ENST00000679351.1:c.364+101C>A	ENSP00000505676.1:n.364+101C>A
ENST00000679707.1:c.364+101C>A	ENSP00000505713.1:n.364+101C>A
ENST00000679836.1:c.364+101C>A	ENSP00000506601.1:n.364+101C>A
ENST00000680700.1:c.364+101C>A	ENSP00000504926.1:n.364+101C>A
ENST00000264228.8:c.364+101C>A	ENSP00000264228.4:n.364+101C>A
ENST00000505210.1:c.289+101C>A	ENSP00000424714.1:n.289+101C>A
ENST00000514398.1:n.373+101C>A
NM_024592.4:c.364+101C>A	NP_078868.1:n.364+101C>A
XM_005265766.2:c.364+101C>A	XP_005265823.1:n.364+101C>A
XM_005265767.2:c.364+101C>A	XP_005265824.1:n.364+101C>A
XM_005265766.4:c.364+101C>A	XP_005265823.1:n.364+101C>A
XM_005265767.3:c.364+101C>A	XP_005265824.1:n.364+101C>A
XM_017008601.1:c.229+101C>A	XP_016864090.1:n.229+101C>A
NM_024592.5:c.364+101C>A MANE Select	NP_078868.1:n.364+101C>A