Canonical Allele Identifier: CA2365857163
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625600C= , CM000682.2:g.44625600C= GRCh38
NC_000020.10:g.43254241C= , CM000682.1:g.43254241C= GRCh37
NC_000020.9:g.42687655C= NCBI36
NG_007385.1:g.31136G= , LRG_16:g.31136G=

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.538G=
ENST00000536076.2:c.294G= ENSP00000512234.1:p.Arg98=
ENST00000536532.6:c.447G= ENSP00000440946.1:p.Arg149=
ENST00000537820.2:c.447G= ENSP00000441818.1:p.Arg149=
ENST00000539235.6:c.219-2522G= ENSP00000446464.1:n.219-2522G=
ENST00000695889.1:c.219-2670G= ENSP00000512240.1:n.219-2670G=
ENST00000695890.1:n.2250G=
ENST00000695891.1:c.219-2670G= ENSP00000512241.1:n.219-2670G=
ENST00000695927.1:c.525G= ENSP00000512270.1:p.Arg175=
ENST00000695949.1:c.444G= ENSP00000512281.1:p.Arg148=
ENST00000695957.1:c.362+856G= ENSP00000512286.1:n.362+856G=
ENST00000695991.1:c.217-2670G= ENSP00000512314.1:n.217-2670G=
ENST00000695992.1:c.447G= ENSP00000512315.1:p.Arg149=
ENST00000695993.1:c.447G= ENSP00000512316.1:p.Arg149=
ENST00000695994.1:c.447G= ENSP00000512317.1:p.Arg149=
ENST00000695995.1:c.217-2522G= ENSP00000512318.1:n.217-2522G=
ENST00000695996.1:n.518G=
ENST00000695997.1:n.433+856G=
ENST00000696003.1:n.539G=
ENST00000696004.1:n.539G=
ENST00000696006.1:c.447G= ENSP00000512325.1:p.Arg149=
ENST00000696007.1:c.329+856G= ENSP00000512326.1:n.329+856G=
ENST00000696008.1:n.363G=
ENST00000696009.1:n.558G=
ENST00000696017.1:c.444G= ENSP00000512333.1:p.Arg148=
ENST00000696034.1:c.447G= ENSP00000512343.1:p.Arg149=
ENST00000696035.1:n.557G=
ENST00000696036.1:n.1137G=
ENST00000696037.1:n.2124G=
ENST00000696038.1:c.*193G= ENSP00000512344.1:n.*193G=
ENST00000696039.1:n.735G=
ENST00000696058.1:c.447G= ENSP00000512361.1:p.Arg149=
ENST00000696059.1:c.*392G= ENSP00000512362.1:n.*392G=
ENST00000696060.1:c.447G= ENSP00000512363.1:p.Arg149=
ENST00000696061.1:c.444G= ENSP00000512364.1:p.Arg148=
ENST00000696062.1:c.510G= ENSP00000512365.1:p.Arg170=
ENST00000696063.1:c.522G= ENSP00000512366.1:p.Arg174=
ENST00000696064.1:c.294G= ENSP00000512367.1:p.Arg98=
ENST00000696065.1:c.66-2670G= ENSP00000512368.1:n.66-2670G=
ENST00000696075.1:c.*417G= ENSP00000512374.1:n.*417G=
ENST00000696076.1:c.447G= ENSP00000512375.1:p.Arg149=
ENST00000696077.1:c.444G= ENSP00000512376.1:p.Arg148=
ENST00000696078.1:c.447G= ENSP00000512377.1:p.Arg149=
ENST00000696079.1:c.447G= ENSP00000512378.1:p.Arg149=
ENST00000696080.1:c.447G= ENSP00000512379.1:p.Arg149=
ENST00000696082.1:c.525G= ENSP00000512380.1:p.Arg175=
ENST00000696083.1:n.89G=
ENST00000696084.1:n.548G=
ENST00000696104.1:c.362+856G= ENSP00000512399.1:n.362+856G=
ENST00000696105.1:c.447G= ENSP00000512400.1:p.Arg149=
ENST00000372874.9:c.447G= MANE Select ENSP00000361965.4:p.Arg149=
ENST00000372874.8:c.447G= ENSP00000361965.4:p.Arg149=
ENST00000464097.5:n.121G=
ENST00000492931.5:n.531G=
ENST00000536532.5:c.447G= ENSP00000440946.1:p.Arg149=
ENST00000537820.1:c.447G= ENSP00000441818.1:p.Arg149=
ENST00000539235.5:c.219-2522G= ENSP00000446464.1:n.219-2522G=
NM_000022.2:c.447G= , LRG_16t1:c.447G= NP_000013.2:p.Arg149=
XM_005260236.2:c.447G= XP_005260293.1:p.Arg149=
XM_011528478.1:c.73+856G= XP_011526780.1:n.73+856G=
XM_011528479.1:c.73+856G= XP_011526781.1:n.73+856G=
XR_244129.1:n.501G=
NM_000022.3:c.447G= NP_000013.2:p.Arg149=
NM_001322050.1:c.73+856G= NP_001308979.1:n.73+856G=
NM_001322051.1:c.447G= NP_001308980.1:p.Arg149=
NR_136160.1:n.598G=
NM_000022.4:c.447G= MANE Select NP_000013.2:p.Arg149=
NM_001322050.2:c.73+856G= NP_001308979.1:n.73+856G=
NM_001322051.2:c.447G= NP_001308980.1:p.Arg149=
NR_136160.2:n.539G=