Canonical Allele Identifier: CA2365856554
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624250C= , CM000682.2:g.44624250C= GRCh38
NC_000020.10:g.43252891C= , CM000682.1:g.43252891C= GRCh37
NC_000020.9:g.42686305C= NCBI36
NG_007385.1:g.32486G= , LRG_16:g.32486G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.649G=
ENST00000536076.2:c.405G= ENSP00000512234.1:p.Glu135=
ENST00000536532.6:c.558G= ENSP00000440946.1:p.Glu186=
ENST00000537820.2:c.558G= ENSP00000441818.1:p.Glu186=
ENST00000539235.6:c.219-1172G= ENSP00000446464.1:n.219-1172G=
ENST00000695889.1:c.219-1320G= ENSP00000512240.1:n.219-1320G=
ENST00000695890.1:n.2361G=
ENST00000695891.1:c.219-1320G= ENSP00000512241.1:n.219-1320G=
ENST00000695927.1:c.636G= ENSP00000512270.1:p.Glu212=
ENST00000695949.1:c.555G= ENSP00000512281.1:p.Glu185=
ENST00000695957.1:c.*49G= ENSP00000512286.1:n.*49G=
ENST00000695991.1:c.217-1320G= ENSP00000512314.1:n.217-1320G=
ENST00000695992.1:c.558G= ENSP00000512315.1:p.Glu186=
ENST00000695993.1:c.558G= ENSP00000512316.1:p.Glu186=
ENST00000695994.1:c.558G= ENSP00000512317.1:p.Glu186=
ENST00000695995.1:c.217-1172G= ENSP00000512318.1:n.217-1172G=
ENST00000695996.1:n.629G=
ENST00000695997.1:n.513G=
ENST00000696003.1:n.650G=
ENST00000696004.1:n.650G=
ENST00000696005.1:c.80G=
ENST00000696006.1:c.558G= ENSP00000512325.1:p.Glu186=
ENST00000696007.1:c.409G= ENSP00000512326.1:n.409G=
ENST00000696008.1:n.1713G=
ENST00000696009.1:n.1908G=
ENST00000696017.1:c.555G= ENSP00000512333.1:p.Glu185=
ENST00000696034.1:c.558G= ENSP00000512343.1:p.Glu186=
ENST00000696035.1:n.668G=
ENST00000696036.1:n.1248G=
ENST00000696037.1:n.2235G=
ENST00000696038.1:c.*304G= ENSP00000512344.1:n.*304G=
ENST00000696039.1:n.846G=
ENST00000696058.1:c.558G= ENSP00000512361.1:p.Glu186=
ENST00000696059.1:c.*503G= ENSP00000512362.1:n.*503G=
ENST00000696060.1:c.558G= ENSP00000512363.1:p.Glu186=
ENST00000696061.1:c.555G= ENSP00000512364.1:p.Glu185=
ENST00000696062.1:c.621G= ENSP00000512365.1:p.Glu207=
ENST00000696063.1:c.633G= ENSP00000512366.1:p.Glu211=
ENST00000696064.1:c.405G= ENSP00000512367.1:p.Glu135=
ENST00000696065.1:c.66-1320G= ENSP00000512368.1:n.66-1320G=
ENST00000696074.1:n.174G=
ENST00000696075.1:c.*528G= ENSP00000512374.1:n.*528G=
ENST00000696076.1:c.558G= ENSP00000512375.1:p.Glu186=
ENST00000696077.1:c.555G= ENSP00000512376.1:p.Glu185=
ENST00000696078.1:c.558G= ENSP00000512377.1:p.Glu186=
ENST00000696079.1:c.558G= ENSP00000512378.1:p.Glu186=
ENST00000696080.1:c.558G= ENSP00000512379.1:p.Glu186=
ENST00000696081.1:n.677G=
ENST00000696082.1:c.636G= ENSP00000512380.1:p.Glu212=
ENST00000696083.1:n.1439G=
ENST00000696084.1:n.659G=
ENST00000696104.1:c.363-1320G= ENSP00000512399.1:n.363-1320G=
ENST00000696105.1:c.*99G= ENSP00000512400.1:n.*99G=
ENST00000372874.9:c.558G= MANE Select ENSP00000361965.4:p.Glu186=
ENST00000372874.8:c.558G= ENSP00000361965.4:p.Glu186=
ENST00000464097.5:n.232G=
ENST00000492931.5:n.642G=
ENST00000536532.5:c.558G= ENSP00000440946.1:p.Glu186=
ENST00000537820.1:c.558G= ENSP00000441818.1:p.Glu186=
ENST00000539235.5:c.219-1172G= ENSP00000446464.1:n.219-1172G=
NM_000022.2:c.558G= , LRG_16t1:c.558G= NP_000013.2:p.Glu186=
XM_005260236.2:c.558G= XP_005260293.1:p.Glu186=
XM_011528478.1:c.153G= XP_011526780.1:p.Glu51=
XM_011528479.1:c.153G= XP_011526781.1:p.Glu51=
XR_244129.1:n.612G=
NM_000022.3:c.558G= NP_000013.2:p.Glu186=
NM_001322050.1:c.153G= NP_001308979.1:p.Glu51=
NM_001322051.1:c.558G= NP_001308980.1:p.Glu186=
NR_136160.1:n.709G=
NM_000022.4:c.558G= MANE Select NP_000013.2:p.Glu186=
NM_001322050.2:c.153G= NP_001308979.1:p.Glu51=
NM_001322051.2:c.558G= NP_001308980.1:p.Glu186=
NR_136160.2:n.650G=