Canonical Allele Identifier: CA2925269

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 2164698
• ClinVar RCV Id: RCV003088165
• dbSNP Id: rs200677326
• ExAC: 4:56225642 G / A
• gnomAD v2: 4-56225642-G-A
• gnomAD v3: 4-55359475-G-A
• gnomAD v4: 4-55359475-G-A
• MyVariant Identifiers: chr4:g.56225642G>A (hg19) ; chr4:g.55359475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359475G>A , CM000666.2:g.55359475G>A	GRCh38
NC_000004.11:g.56225642G>A , CM000666.1:g.56225642G>A	GRCh37
NC_000004.10:g.55920399G>A	NCBI36
NG_028230.1:g.18255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.351G>A MANE Select	ENSP00000264228.4:p.Ala117=
ENST00000677177.2:c.64G>A
ENST00000678717.1:n.248G>A
ENST00000679351.1:c.351G>A	ENSP00000505676.1:p.Ala117=
ENST00000679707.1:c.351G>A	ENSP00000505713.1:p.Ala117=
ENST00000679836.1:c.351G>A	ENSP00000506601.1:p.Ala117=
ENST00000680700.1:c.351G>A	ENSP00000504926.1:p.Ala117=
ENST00000264228.8:c.351G>A	ENSP00000264228.4:p.Ala117=
ENST00000505210.1:c.276G>A	ENSP00000424714.1:p.Ala92=
ENST00000514398.1:n.360G>A
NM_024592.4:c.351G>A	NP_078868.1:p.Ala117=
XM_005265766.2:c.351G>A	XP_005265823.1:p.Ala117=
XM_005265767.2:c.351G>A	XP_005265824.1:p.Ala117=
XM_005265766.4:c.351G>A	XP_005265823.1:p.Ala117=
XM_005265767.3:c.351G>A	XP_005265824.1:p.Ala117=
XM_017008601.1:c.216G>A	XP_016864090.1:p.Ala72=
NM_024592.5:c.351G>A MANE Select	NP_078868.1:p.Ala117=