Canonical Allele Identifier: CA409120911
Gene: ADA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624287T>C , CM000682.2:g.44624287T>C GRCh38
NC_000020.10:g.43252928T>C , CM000682.1:g.43252928T>C GRCh37
NC_000020.9:g.42686342T>C NCBI36
NG_007385.1:g.32449A>G , LRG_16:g.32449A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.612A>G
ENST00000536076.2:c.368A>G ENSP00000512234.1:p.Gln123Arg
ENST00000536532.6:c.521A>G ENSP00000440946.1:p.Gln174Arg
ENST00000537820.2:c.521A>G ENSP00000441818.1:p.Gln174Arg
ENST00000539235.6:c.219-1209A>G ENSP00000446464.1:n.219-1209A>G
ENST00000695889.1:c.219-1357A>G ENSP00000512240.1:n.219-1357A>G
ENST00000695890.1:n.2324A>G
ENST00000695891.1:c.219-1357A>G ENSP00000512241.1:n.219-1357A>G
ENST00000695927.1:c.599A>G ENSP00000512270.1:p.Gln200Arg
ENST00000695949.1:c.518A>G ENSP00000512281.1:p.Gln173Arg
ENST00000695957.1:c.*12A>G ENSP00000512286.1:n.*12A>G
ENST00000695991.1:c.217-1357A>G ENSP00000512314.1:n.217-1357A>G
ENST00000695992.1:c.521A>G ENSP00000512315.1:p.Gln174Arg
ENST00000695993.1:c.521A>G ENSP00000512316.1:p.Gln174Arg
ENST00000695994.1:c.521A>G ENSP00000512317.1:p.Gln174Arg
ENST00000695995.1:c.217-1209A>G ENSP00000512318.1:n.217-1209A>G
ENST00000695996.1:n.592A>G
ENST00000695997.1:n.476A>G
ENST00000696003.1:n.613A>G
ENST00000696004.1:n.613A>G
ENST00000696005.1:c.43A>G
ENST00000696006.1:c.521A>G ENSP00000512325.1:p.Gln174Arg
ENST00000696007.1:c.372A>G ENSP00000512326.1:n.372A>G
ENST00000696008.1:n.1676A>G
ENST00000696009.1:n.1871A>G
ENST00000696017.1:c.518A>G ENSP00000512333.1:p.Gln173Arg
ENST00000696034.1:c.521A>G ENSP00000512343.1:p.Gln174Arg
ENST00000696035.1:n.631A>G
ENST00000696036.1:n.1211A>G
ENST00000696037.1:n.2198A>G
ENST00000696038.1:c.*267A>G ENSP00000512344.1:n.*267A>G
ENST00000696039.1:n.809A>G
ENST00000696058.1:c.521A>G ENSP00000512361.1:p.Gln174Arg
ENST00000696059.1:c.*466A>G ENSP00000512362.1:n.*466A>G
ENST00000696060.1:c.521A>G ENSP00000512363.1:p.Gln174Arg
ENST00000696061.1:c.518A>G ENSP00000512364.1:p.Gln173Arg
ENST00000696062.1:c.584A>G ENSP00000512365.1:p.Gln195Arg
ENST00000696063.1:c.596A>G ENSP00000512366.1:p.Gln199Arg
ENST00000696064.1:c.368A>G ENSP00000512367.1:p.Gln123Arg
ENST00000696065.1:c.66-1357A>G ENSP00000512368.1:n.66-1357A>G
ENST00000696074.1:n.137A>G
ENST00000696075.1:c.*491A>G ENSP00000512374.1:n.*491A>G
ENST00000696076.1:c.521A>G ENSP00000512375.1:p.Gln174Arg
ENST00000696077.1:c.518A>G ENSP00000512376.1:p.Gln173Arg
ENST00000696078.1:c.521A>G ENSP00000512377.1:p.Gln174Arg
ENST00000696079.1:c.521A>G ENSP00000512378.1:p.Gln174Arg
ENST00000696080.1:c.521A>G ENSP00000512379.1:p.Gln174Arg
ENST00000696081.1:n.640A>G
ENST00000696082.1:c.599A>G ENSP00000512380.1:p.Gln200Arg
ENST00000696083.1:n.1402A>G
ENST00000696084.1:n.622A>G
ENST00000696104.1:c.363-1357A>G ENSP00000512399.1:n.363-1357A>G
ENST00000696105.1:c.*62A>G ENSP00000512400.1:n.*62A>G
ENST00000372874.9:c.521A>G MANE Select ENSP00000361965.4:p.Gln174Arg
ENST00000372874.8:c.521A>G ENSP00000361965.4:p.Gln174Arg
ENST00000464097.5:n.195A>G
ENST00000492931.5:n.605A>G
ENST00000536532.5:c.521A>G ENSP00000440946.1:p.Gln174Arg
ENST00000537820.1:c.521A>G ENSP00000441818.1:p.Gln174Arg
ENST00000539235.5:c.219-1209A>G ENSP00000446464.1:n.219-1209A>G
NM_000022.2:c.521A>G , LRG_16t1:c.521A>G NP_000013.2:p.Gln174Arg
XM_005260236.2:c.521A>G XP_005260293.1:p.Gln174Arg
XM_011528478.1:c.116A>G XP_011526780.1:p.Gln39Arg
XM_011528479.1:c.116A>G XP_011526781.1:p.Gln39Arg
XR_244129.1:n.575A>G
NM_000022.3:c.521A>G NP_000013.2:p.Gln174Arg
NM_001322050.1:c.116A>G NP_001308979.1:p.Gln39Arg
NM_001322051.1:c.521A>G NP_001308980.1:p.Gln174Arg
NR_136160.1:n.672A>G
NM_000022.4:c.521A>G MANE Select NP_000013.2:p.Gln174Arg
NM_001322050.2:c.116A>G NP_001308979.1:p.Gln39Arg
NM_001322051.2:c.521A>G NP_001308980.1:p.Gln174Arg
NR_136160.2:n.613A>G