Canonical Allele Identifier: CA97479123
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs35064347

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346367del , CM000666.2:g.55346367del GRCh38
NC_000004.11:g.56212534del , CM000666.1:g.56212534del GRCh37
NC_000004.10:g.55907291del NCBI36
NG_028230.1:g.5147del

Transcript Alleles

HGVS Amino-acid change
ENST00000264228.9:c.31del MANE Select ENSP00000264228.4:p.Ala11ArgfsTer2
ENST00000679351.1:c.31del ENSP00000505676.1:p.Ala11ArgfsTer2
ENST00000679707.1:c.31del ENSP00000505713.1:p.Ala11ArgfsTer2
ENST00000679836.1:c.31del ENSP00000506601.1:p.Ala11ArgfsTer2
ENST00000680700.1:c.31del ENSP00000504926.1:p.Ala11ArgfsTer2
ENST00000264228.8:c.31del ENSP00000264228.4:p.Ala11ArgfsTer2
NM_024592.4:c.31del NP_078868.1:p.Ala11ArgfsTer2
XM_005265766.2:c.31del XP_005265823.1:p.Ala11ArgfsTer2
XM_005265767.2:c.31del XP_005265824.1:p.Ala11ArgfsTer2
XM_005265766.4:c.31del XP_005265823.1:p.Ala11ArgfsTer2
XM_005265767.3:c.31del XP_005265824.1:p.Ala11ArgfsTer2
NM_024592.5:c.31del MANE Select NP_078868.1:p.Ala11ArgfsTer2