Canonical Allele Identifier: CA356956634
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs1274540618
gnomAD v2: 4-56212577-C-T
gnomAD v3: 4-55346410-C-T
gnomAD v4: 4-55346410-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346410C>T , CM000666.2:g.55346410C>T GRCh38
NC_000004.11:g.56212577C>T , CM000666.1:g.56212577C>T GRCh37
NC_000004.10:g.55907334C>T NCBI36
NG_028230.1:g.5190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.74C>T MANE Select ENSP00000264228.4:p.Ala25Val
ENST00000679351.1:c.74C>T ENSP00000505676.1:p.Ala25Val
ENST00000679707.1:c.74C>T ENSP00000505713.1:p.Ala25Val
ENST00000679836.1:c.74C>T ENSP00000506601.1:p.Ala25Val
ENST00000680700.1:c.74C>T ENSP00000504926.1:p.Ala25Val
ENST00000264228.8:c.74C>T ENSP00000264228.4:p.Ala25Val
NM_024592.4:c.74C>T NP_078868.1:p.Ala25Val
XM_005265766.2:c.74C>T XP_005265823.1:p.Ala25Val
XM_005265767.2:c.74C>T XP_005265824.1:p.Ala25Val
XM_005265766.4:c.74C>T XP_005265823.1:p.Ala25Val
XM_005265767.3:c.74C>T XP_005265824.1:p.Ala25Val
NM_024592.5:c.74C>T MANE Select NP_078868.1:p.Ala25Val