Canonical Allele Identifier: CA275264

Gene: SRD5A3 SRD5A3-AS1

Linked Data

• ClinVar Variation Id: 197351
• ClinVar RCV Id: RCV000178363 ; RCV000623571 ; RCV000779444 ; RCV000851210
• dbSNP Id: rs765191836
• gnomAD v3: 4-55367628-G-A
• gnomAD v4: 4-55367628-G-A
• MyVariant Identifiers: chr4:g.56233795G>A (hg19) ; chr4:g.55367628G>A (hg38)
• PubMed: PMID:20637498 ; PMID:20700148 ; PMID:20852264 ; PMID:24433453 ; PMID:26219881 ; PMID:27480077 ; PMID:28253385

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55367628G>A , CM000666.2:g.55367628G>A	GRCh38
NC_000004.11:g.56233795G>A , CM000666.1:g.56233795G>A	GRCh37
NC_000004.10:g.55928552G>A	NCBI36
NG_028230.1:g.26408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.603G>A (SRD5A3) MANE Select	ENSP00000264228.4:p.Trp201Ter
ENST00000677177.2:c.450G>A (SRD5A3)
ENST00000677217.1:n.435-2204G>A (SRD5A3)
ENST00000677930.1:n.2935G>A (SRD5A3)
ENST00000678717.1:n.500G>A (SRD5A3)
ENST00000679351.1:c.*209G>A	ENSP00000505676.1:n.*209G>A
ENST00000679707.1:c.562+3357G>A	ENSP00000505713.1:n.562+3357G>A
ENST00000679836.1:c.563-2204G>A (SRD5A3)	ENSP00000506601.1:n.563-2204G>A
ENST00000680700.1:c.562+3357G>A	ENSP00000504926.1:n.562+3357G>A
ENST00000264228.8:c.603G>A (SRD5A3)	ENSP00000264228.4:p.Trp201Ter
ENST00000505210.1:c.290-2204G>A (SRD5A3)	ENSP00000424714.1:n.290-2204G>A
ENST00000514398.1:n.572-2204G>A (SRD5A3)
NM_024592.4:c.603G>A (SRD5A3)	NP_078868.1:p.Trp201Ter
NR_037969.1:n.364-465C>T (SRD5A3-AS1)
XM_005265766.2:c.563-2204G>A (SRD5A3)	XP_005265823.1:n.563-2204G>A
XM_005265767.2:c.365-2204G>A (SRD5A3)	XP_005265824.1:n.365-2204G>A
XM_005265766.4:c.563-2204G>A (SRD5A3)	XP_005265823.1:n.563-2204G>A
XM_005265767.3:c.365-2204G>A (SRD5A3)	XP_005265824.1:n.365-2204G>A
XM_017008601.1:c.468G>A (SRD5A3)	XP_016864090.1:p.Trp156Ter
NM_024592.5:c.603G>A (SRD5A3) MANE Select	NP_078868.1:p.Trp201Ter