Canonical Allele Identifier: CA223758

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 96125
• ClinVar RCV Id: RCV000082197 ; RCV000173528 ; RCV001003586 ; RCV001814055 ; RCV000851211 ; RCV001542529
• dbSNP Id: rs398124401
• ExAC: 4:56212560 G / A
• gnomAD v2: 4-56212560-G-A
• gnomAD v3: 4-55346393-G-A
• gnomAD v4: 4-55346393-G-A
• MyVariant Identifiers: chr4:g.56212560G>A (hg19) ; chr4:g.55346393G>A (hg38)
• PubMed: PMID:23891399 ; PMID:28940310

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346393G>A , CM000666.2:g.55346393G>A	GRCh38
NC_000004.11:g.56212560G>A , CM000666.1:g.56212560G>A	GRCh37
NC_000004.10:g.55907317G>A	NCBI36
NG_028230.1:g.5173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.57G>A MANE Select	ENSP00000264228.4:p.Trp19Ter
ENST00000679351.1:c.57G>A	ENSP00000505676.1:p.Trp19Ter
ENST00000679707.1:c.57G>A	ENSP00000505713.1:p.Trp19Ter
ENST00000679836.1:c.57G>A	ENSP00000506601.1:p.Trp19Ter
ENST00000680700.1:c.57G>A	ENSP00000504926.1:p.Trp19Ter
ENST00000264228.8:c.57G>A	ENSP00000264228.4:p.Trp19Ter
NM_024592.4:c.57G>A	NP_078868.1:p.Trp19Ter
XM_005265766.2:c.57G>A	XP_005265823.1:p.Trp19Ter
XM_005265767.2:c.57G>A	XP_005265824.1:p.Trp19Ter
XM_005265766.4:c.57G>A	XP_005265823.1:p.Trp19Ter
XM_005265767.3:c.57G>A	XP_005265824.1:p.Trp19Ter
NM_024592.5:c.57G>A MANE Select	NP_078868.1:p.Trp19Ter