Canonical Allele Identifier: CA97480726
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs572589851
gnomAD v3: 4-55359234-A-G
gnomAD v4: 4-55359234-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359234A>G , CM000666.2:g.55359234A>G GRCh38
NC_000004.11:g.56225401A>G , CM000666.1:g.56225401A>G GRCh37
NC_000004.10:g.55920158A>G NCBI36
NG_028230.1:g.18014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.222-112A>G MANE Select ENSP00000264228.4:n.222-112A>G
ENST00000678717.1:n.119-112A>G
ENST00000679351.1:c.222-112A>G ENSP00000505676.1:n.222-112A>G
ENST00000679707.1:c.222-112A>G ENSP00000505713.1:n.222-112A>G
ENST00000679836.1:c.222-112A>G ENSP00000506601.1:n.222-112A>G
ENST00000680700.1:c.222-112A>G ENSP00000504926.1:n.222-112A>G
ENST00000264228.8:c.222-112A>G ENSP00000264228.4:n.222-112A>G
ENST00000505210.1:c.147-112A>G ENSP00000424714.1:n.147-112A>G
ENST00000514398.1:n.230+5A>G
NM_024592.4:c.222-112A>G NP_078868.1:n.222-112A>G
XM_005265766.2:c.222-112A>G XP_005265823.1:n.222-112A>G
XM_005265767.2:c.222-112A>G XP_005265824.1:n.222-112A>G
XM_005265766.4:c.222-112A>G XP_005265823.1:n.222-112A>G
XM_005265767.3:c.222-112A>G XP_005265824.1:n.222-112A>G
XM_017008601.1:c.87-112A>G XP_016864090.1:n.87-112A>G
NM_024592.5:c.222-112A>G MANE Select NP_078868.1:n.222-112A>G