Canonical Allele Identifier: CA356956980

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1351549030
• gnomAD v2: 4-56225527-T-G
• gnomAD v4: 4-55359360-T-G
• MyVariant Identifiers: chr4:g.56225527T>G (hg19) ; chr4:g.55359360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359360T>G , CM000666.2:g.55359360T>G	GRCh38
NC_000004.11:g.56225527T>G , CM000666.1:g.56225527T>G	GRCh37
NC_000004.10:g.55920284T>G	NCBI36
NG_028230.1:g.18140T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.236T>G MANE Select	ENSP00000264228.4:p.Phe79Cys
ENST00000678717.1:n.133T>G
ENST00000679351.1:c.236T>G	ENSP00000505676.1:p.Phe79Cys
ENST00000679707.1:c.236T>G	ENSP00000505713.1:p.Phe79Cys
ENST00000679836.1:c.236T>G	ENSP00000506601.1:p.Phe79Cys
ENST00000680700.1:c.236T>G	ENSP00000504926.1:p.Phe79Cys
ENST00000264228.8:c.236T>G	ENSP00000264228.4:p.Phe79Cys
ENST00000505210.1:c.161T>G	ENSP00000424714.1:p.Phe54Cys
ENST00000514398.1:n.245T>G
NM_024592.4:c.236T>G	NP_078868.1:p.Phe79Cys
XM_005265766.2:c.236T>G	XP_005265823.1:p.Phe79Cys
XM_005265767.2:c.236T>G	XP_005265824.1:p.Phe79Cys
XM_005265766.4:c.236T>G	XP_005265823.1:p.Phe79Cys
XM_005265767.3:c.236T>G	XP_005265824.1:p.Phe79Cys
XM_017008601.1:c.101T>G	XP_016864090.1:p.Phe34Cys
NM_024592.5:c.236T>G MANE Select	NP_078868.1:p.Phe79Cys