Canonical Allele Identifier: CA2925405
Community Standard Title: NM_024592.5(SRD5A3):c.837A>G (p.Leu279=)
Gene: SRD5A3 HGNC NCBI
SRD5A3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55369971A>G , CM000666.2:g.55369971A>G GRCh38
NC_000004.11:g.56236138A>G , CM000666.1:g.56236138A>G GRCh37
NC_000004.10:g.55930895A>G NCBI36
NG_028230.1:g.28751A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024592.5:c.837A>G (SRD5A3) MANE Select NP_078868.1:p.Leu279=
ENST00000264228.9:c.837A>G (SRD5A3) MANE Select ENSP00000264228.4:p.Leu279=
NM_024592.4:c.837A>G (SRD5A3) NP_078868.1:p.Leu279=
NR_037969.1:n.364-2808T>C (SRD5A3-AS1)
ENST00000264228.8:c.837A>G (SRD5A3) ENSP00000264228.4:p.Leu279=
ENST00000505210.1:c.429A>G (SRD5A3) ENSP00000424714.1:p.Leu143=
ENST00000514398.1:n.711A>G (SRD5A3)
ENST00000677177.2:c.684A>G (SRD5A3)
ENST00000677217.1:n.574A>G (SRD5A3)
ENST00000677930.1:n.3169A>G (SRD5A3)
ENST00000678717.1:n.734A>G (SRD5A3)
ENST00000679351.1:c.*443A>G ENSP00000505676.1:n.*443A>G
ENST00000679707.1:c.563-1703A>G ENSP00000505713.1:n.563-1703A>G
ENST00000679836.1:c.702A>G (SRD5A3) ENSP00000506601.1:p.Leu234=
ENST00000680700.1:c.562+5700A>G ENSP00000504926.1:n.562+5700A>G
XM_005265766.2:c.702A>G (SRD5A3) XP_005265823.1:p.Leu234=
XM_005265766.4:c.702A>G (SRD5A3) XP_005265823.1:p.Leu234=
XM_005265767.2:c.504A>G (SRD5A3) XP_005265824.1:p.Leu168=
XM_005265767.3:c.504A>G (SRD5A3) XP_005265824.1:p.Leu168=
XM_017008601.1:c.702A>G (SRD5A3) XP_016864090.1:p.Leu234=