Canonical Allele Identifier: CA251622

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 18405
• ClinVar RCV Id: RCV001781294 ; RCV000000891
• dbSNP Id: rs267607093
• MyVariant Identifiers: chr4:g.56225611G>A (hg19) ; chr4:g.55359444G>A (hg38)
• PubMed: PMID:20637498 ; PMID:26219881

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359444G>A , CM000666.2:g.55359444G>A	GRCh38
NC_000004.11:g.56225611G>A , CM000666.1:g.56225611G>A	GRCh37
NC_000004.10:g.55920368G>A	NCBI36
NG_028230.1:g.18224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.320G>A MANE Select	ENSP00000264228.4:p.Trp107Ter
ENST00000677177.2:c.33G>A
ENST00000678717.1:n.217G>A
ENST00000679351.1:c.320G>A	ENSP00000505676.1:p.Trp107Ter
ENST00000679707.1:c.320G>A	ENSP00000505713.1:p.Trp107Ter
ENST00000679836.1:c.320G>A	ENSP00000506601.1:p.Trp107Ter
ENST00000680700.1:c.320G>A	ENSP00000504926.1:p.Trp107Ter
ENST00000264228.8:c.320G>A	ENSP00000264228.4:p.Trp107Ter
ENST00000505210.1:c.245G>A	ENSP00000424714.1:p.Trp82Ter
ENST00000514398.1:n.329G>A
NM_024592.4:c.320G>A	NP_078868.1:p.Trp107Ter
XM_005265766.2:c.320G>A	XP_005265823.1:p.Trp107Ter
XM_005265767.2:c.320G>A	XP_005265824.1:p.Trp107Ter
XM_005265766.4:c.320G>A	XP_005265823.1:p.Trp107Ter
XM_005265767.3:c.320G>A	XP_005265824.1:p.Trp107Ter
XM_017008601.1:c.185G>A	XP_016864090.1:p.Trp62Ter
NM_024592.5:c.320G>A MANE Select	NP_078868.1:p.Trp107Ter