Canonical Allele Identifier: CA2365857178
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625626C= , CM000682.2:g.44625626C= GRCh38
NC_000020.10:g.43254267C= , CM000682.1:g.43254267C= GRCh37
NC_000020.9:g.42687681C= NCBI36
NG_007385.1:g.31110G= , LRG_16:g.31110G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.512G=
ENST00000536076.2:c.268G= ENSP00000512234.1:p.Glu90=
ENST00000536532.6:c.421G= ENSP00000440946.1:p.Glu141=
ENST00000537820.2:c.421G= ENSP00000441818.1:p.Glu141=
ENST00000539235.6:c.219-2548G= ENSP00000446464.1:n.219-2548G=
ENST00000695889.1:c.219-2696G= ENSP00000512240.1:n.219-2696G=
ENST00000695890.1:n.2224G=
ENST00000695891.1:c.219-2696G= ENSP00000512241.1:n.219-2696G=
ENST00000695927.1:c.499G= ENSP00000512270.1:p.Glu167=
ENST00000695949.1:c.418G= ENSP00000512281.1:p.Glu140=
ENST00000695957.1:c.362+830G= ENSP00000512286.1:n.362+830G=
ENST00000695991.1:c.217-2696G= ENSP00000512314.1:n.217-2696G=
ENST00000695992.1:c.421G= ENSP00000512315.1:p.Glu141=
ENST00000695993.1:c.421G= ENSP00000512316.1:p.Glu141=
ENST00000695994.1:c.421G= ENSP00000512317.1:p.Glu141=
ENST00000695995.1:c.217-2548G= ENSP00000512318.1:n.217-2548G=
ENST00000695996.1:n.492G=
ENST00000695997.1:n.433+830G=
ENST00000696003.1:n.513G=
ENST00000696004.1:n.513G=
ENST00000696006.1:c.421G= ENSP00000512325.1:p.Glu141=
ENST00000696007.1:c.329+830G= ENSP00000512326.1:n.329+830G=
ENST00000696008.1:n.337G=
ENST00000696009.1:n.532G=
ENST00000696017.1:c.418G= ENSP00000512333.1:p.Glu140=
ENST00000696034.1:c.421G= ENSP00000512343.1:p.Glu141=
ENST00000696035.1:n.531G=
ENST00000696036.1:n.1111G=
ENST00000696037.1:n.2098G=
ENST00000696038.1:c.*167G= ENSP00000512344.1:n.*167G=
ENST00000696039.1:n.709G=
ENST00000696058.1:c.421G= ENSP00000512361.1:p.Glu141=
ENST00000696059.1:c.*366G= ENSP00000512362.1:n.*366G=
ENST00000696060.1:c.421G= ENSP00000512363.1:p.Glu141=
ENST00000696061.1:c.418G= ENSP00000512364.1:p.Glu140=
ENST00000696062.1:c.484G= ENSP00000512365.1:p.Glu162=
ENST00000696063.1:c.496G= ENSP00000512366.1:p.Glu166=
ENST00000696064.1:c.268G= ENSP00000512367.1:p.Glu90=
ENST00000696065.1:c.66-2696G= ENSP00000512368.1:n.66-2696G=
ENST00000696075.1:c.*391G= ENSP00000512374.1:n.*391G=
ENST00000696076.1:c.421G= ENSP00000512375.1:p.Glu141=
ENST00000696077.1:c.418G= ENSP00000512376.1:p.Glu140=
ENST00000696078.1:c.421G= ENSP00000512377.1:p.Glu141=
ENST00000696079.1:c.421G= ENSP00000512378.1:p.Glu141=
ENST00000696080.1:c.421G= ENSP00000512379.1:p.Glu141=
ENST00000696082.1:c.499G= ENSP00000512380.1:p.Glu167=
ENST00000696083.1:n.63G=
ENST00000696084.1:n.522G=
ENST00000696104.1:c.362+830G= ENSP00000512399.1:n.362+830G=
ENST00000696105.1:c.421G= ENSP00000512400.1:p.Glu141=
ENST00000372874.9:c.421G= MANE Select ENSP00000361965.4:p.Glu141=
ENST00000372874.8:c.421G= ENSP00000361965.4:p.Glu141=
ENST00000464097.5:n.95G=
ENST00000492931.5:n.505G=
ENST00000536532.5:c.421G= ENSP00000440946.1:p.Glu141=
ENST00000537820.1:c.421G= ENSP00000441818.1:p.Glu141=
ENST00000539235.5:c.219-2548G= ENSP00000446464.1:n.219-2548G=
NM_000022.2:c.421G= , LRG_16t1:c.421G= NP_000013.2:p.Glu141=
XM_005260236.2:c.421G= XP_005260293.1:p.Glu141=
XM_011528478.1:c.73+830G= XP_011526780.1:n.73+830G=
XM_011528479.1:c.73+830G= XP_011526781.1:n.73+830G=
XR_244129.1:n.475G=
NM_000022.3:c.421G= NP_000013.2:p.Glu141=
NM_001322050.1:c.73+830G= NP_001308979.1:n.73+830G=
NM_001322051.1:c.421G= NP_001308980.1:p.Glu141=
NR_136160.1:n.572G=
NM_000022.4:c.421G= MANE Select NP_000013.2:p.Glu141=
NM_001322050.2:c.73+830G= NP_001308979.1:n.73+830G=
NM_001322051.2:c.421G= NP_001308980.1:p.Glu141=
NR_136160.2:n.513G=