Canonical Allele Identifier: CA439638260

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1208449380
• gnomAD v2: 4-56212620-G-A
• gnomAD v4: 4-55346453-G-A
• MyVariant Identifiers: chr4:g.56212620G>A (hg19) ; chr4:g.55346453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346453G>A , CM000666.2:g.55346453G>A	GRCh38
NC_000004.11:g.56212620G>A , CM000666.1:g.56212620G>A	GRCh37
NC_000004.10:g.55907377G>A	NCBI36
NG_028230.1:g.5233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.117G>A MANE Select	ENSP00000264228.4:p.Leu39=
ENST00000679351.1:c.117G>A	ENSP00000505676.1:p.Leu39=
ENST00000679707.1:c.117G>A	ENSP00000505713.1:p.Leu39=
ENST00000679836.1:c.117G>A	ENSP00000506601.1:p.Leu39=
ENST00000680700.1:c.117G>A	ENSP00000504926.1:p.Leu39=
ENST00000264228.8:c.117G>A	ENSP00000264228.4:p.Leu39=
ENST00000505210.1:c.42G>A	ENSP00000424714.1:p.Leu14=
NM_024592.4:c.117G>A	NP_078868.1:p.Leu39=
XM_005265766.2:c.117G>A	XP_005265823.1:p.Leu39=
XM_005265767.2:c.117G>A	XP_005265824.1:p.Leu39=
XM_005265766.4:c.117G>A	XP_005265823.1:p.Leu39=
XM_005265767.3:c.117G>A	XP_005265824.1:p.Leu39=
NM_024592.5:c.117G>A MANE Select	NP_078868.1:p.Leu39=