Canonical Allele Identifier: CA2365856558
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624261C= , CM000682.2:g.44624261C= GRCh38
NC_000020.10:g.43252902C= , CM000682.1:g.43252902C= GRCh37
NC_000020.9:g.42686316C= NCBI36
NG_007385.1:g.32475G= , LRG_16:g.32475G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.638G=
ENST00000536076.2:c.394G= ENSP00000512234.1:p.Ala132=
ENST00000536532.6:c.547G= ENSP00000440946.1:p.Ala183=
ENST00000537820.2:c.547G= ENSP00000441818.1:p.Ala183=
ENST00000539235.6:c.219-1183G= ENSP00000446464.1:n.219-1183G=
ENST00000695889.1:c.219-1331G= ENSP00000512240.1:n.219-1331G=
ENST00000695890.1:n.2350G=
ENST00000695891.1:c.219-1331G= ENSP00000512241.1:n.219-1331G=
ENST00000695927.1:c.625G= ENSP00000512270.1:p.Ala209=
ENST00000695949.1:c.544G= ENSP00000512281.1:p.Ala182=
ENST00000695957.1:c.*38G= ENSP00000512286.1:n.*38G=
ENST00000695991.1:c.217-1331G= ENSP00000512314.1:n.217-1331G=
ENST00000695992.1:c.547G= ENSP00000512315.1:p.Ala183=
ENST00000695993.1:c.547G= ENSP00000512316.1:p.Ala183=
ENST00000695994.1:c.547G= ENSP00000512317.1:p.Ala183=
ENST00000695995.1:c.217-1183G= ENSP00000512318.1:n.217-1183G=
ENST00000695996.1:n.618G=
ENST00000695997.1:n.502G=
ENST00000696003.1:n.639G=
ENST00000696004.1:n.639G=
ENST00000696005.1:c.69G=
ENST00000696006.1:c.547G= ENSP00000512325.1:p.Ala183=
ENST00000696007.1:c.398G= ENSP00000512326.1:n.398G=
ENST00000696008.1:n.1702G=
ENST00000696009.1:n.1897G=
ENST00000696017.1:c.544G= ENSP00000512333.1:p.Ala182=
ENST00000696034.1:c.547G= ENSP00000512343.1:p.Ala183=
ENST00000696035.1:n.657G=
ENST00000696036.1:n.1237G=
ENST00000696037.1:n.2224G=
ENST00000696038.1:c.*293G= ENSP00000512344.1:n.*293G=
ENST00000696039.1:n.835G=
ENST00000696058.1:c.547G= ENSP00000512361.1:p.Ala183=
ENST00000696059.1:c.*492G= ENSP00000512362.1:n.*492G=
ENST00000696060.1:c.547G= ENSP00000512363.1:p.Ala183=
ENST00000696061.1:c.544G= ENSP00000512364.1:p.Ala182=
ENST00000696062.1:c.610G= ENSP00000512365.1:p.Ala204=
ENST00000696063.1:c.622G= ENSP00000512366.1:p.Ala208=
ENST00000696064.1:c.394G= ENSP00000512367.1:p.Ala132=
ENST00000696065.1:c.66-1331G= ENSP00000512368.1:n.66-1331G=
ENST00000696074.1:n.163G=
ENST00000696075.1:c.*517G= ENSP00000512374.1:n.*517G=
ENST00000696076.1:c.547G= ENSP00000512375.1:p.Ala183=
ENST00000696077.1:c.544G= ENSP00000512376.1:p.Ala182=
ENST00000696078.1:c.547G= ENSP00000512377.1:p.Ala183=
ENST00000696079.1:c.547G= ENSP00000512378.1:p.Ala183=
ENST00000696080.1:c.547G= ENSP00000512379.1:p.Ala183=
ENST00000696081.1:n.666G=
ENST00000696082.1:c.625G= ENSP00000512380.1:p.Ala209=
ENST00000696083.1:n.1428G=
ENST00000696084.1:n.648G=
ENST00000696104.1:c.363-1331G= ENSP00000512399.1:n.363-1331G=
ENST00000696105.1:c.*88G= ENSP00000512400.1:n.*88G=
ENST00000372874.9:c.547G= MANE Select ENSP00000361965.4:p.Ala183=
ENST00000372874.8:c.547G= ENSP00000361965.4:p.Ala183=
ENST00000464097.5:n.221G=
ENST00000492931.5:n.631G=
ENST00000536532.5:c.547G= ENSP00000440946.1:p.Ala183=
ENST00000537820.1:c.547G= ENSP00000441818.1:p.Ala183=
ENST00000539235.5:c.219-1183G= ENSP00000446464.1:n.219-1183G=
NM_000022.2:c.547G= , LRG_16t1:c.547G= NP_000013.2:p.Ala183=
XM_005260236.2:c.547G= XP_005260293.1:p.Ala183=
XM_011528478.1:c.142G= XP_011526780.1:p.Ala48=
XM_011528479.1:c.142G= XP_011526781.1:p.Ala48=
XR_244129.1:n.601G=
NM_000022.3:c.547G= NP_000013.2:p.Ala183=
NM_001322050.1:c.142G= NP_001308979.1:p.Ala48=
NM_001322051.1:c.547G= NP_001308980.1:p.Ala183=
NR_136160.1:n.698G=
NM_000022.4:c.547G= MANE Select NP_000013.2:p.Ala183=
NM_001322050.2:c.142G= NP_001308979.1:p.Ala48=
NM_001322051.2:c.547G= NP_001308980.1:p.Ala183=
NR_136160.2:n.639G=