Canonical Allele Identifier: CA2365856590
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624312C= , CM000682.2:g.44624312C= GRCh38
NC_000020.10:g.43252953C= , CM000682.1:g.43252953C= GRCh37
NC_000020.9:g.42686367C= NCBI36
NG_007385.1:g.32424G= , LRG_16:g.32424G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.587G=
ENST00000536076.2:c.343G= ENSP00000512234.1:p.Val115=
ENST00000536532.6:c.496G= ENSP00000440946.1:p.Val166=
ENST00000537820.2:c.496G= ENSP00000441818.1:p.Val166=
ENST00000539235.6:c.219-1234G= ENSP00000446464.1:n.219-1234G=
ENST00000695889.1:c.219-1382G= ENSP00000512240.1:n.219-1382G=
ENST00000695890.1:n.2299G=
ENST00000695891.1:c.219-1382G= ENSP00000512241.1:n.219-1382G=
ENST00000695927.1:c.574G= ENSP00000512270.1:p.Val192=
ENST00000695949.1:c.493G= ENSP00000512281.1:p.Val165=
ENST00000695957.1:c.380G= ENSP00000512286.1:p.Gly127=
ENST00000695991.1:c.217-1382G= ENSP00000512314.1:n.217-1382G=
ENST00000695992.1:c.496G= ENSP00000512315.1:p.Val166=
ENST00000695993.1:c.496G= ENSP00000512316.1:p.Val166=
ENST00000695994.1:c.496G= ENSP00000512317.1:p.Val166=
ENST00000695995.1:c.217-1234G= ENSP00000512318.1:n.217-1234G=
ENST00000695996.1:n.567G=
ENST00000695997.1:n.451G=
ENST00000696003.1:n.588G=
ENST00000696004.1:n.588G=
ENST00000696005.1:c.18G=
ENST00000696006.1:c.496G= ENSP00000512325.1:p.Val166=
ENST00000696007.1:c.347G= ENSP00000512326.1:p.Gly116=
ENST00000696008.1:n.1651G=
ENST00000696009.1:n.1846G=
ENST00000696017.1:c.493G= ENSP00000512333.1:p.Val165=
ENST00000696034.1:c.496G= ENSP00000512343.1:p.Val166=
ENST00000696035.1:n.606G=
ENST00000696036.1:n.1186G=
ENST00000696037.1:n.2173G=
ENST00000696038.1:c.*242G= ENSP00000512344.1:n.*242G=
ENST00000696039.1:n.784G=
ENST00000696058.1:c.496G= ENSP00000512361.1:p.Val166=
ENST00000696059.1:c.*441G= ENSP00000512362.1:n.*441G=
ENST00000696060.1:c.496G= ENSP00000512363.1:p.Val166=
ENST00000696061.1:c.493G= ENSP00000512364.1:p.Val165=
ENST00000696062.1:c.559G= ENSP00000512365.1:p.Val187=
ENST00000696063.1:c.571G= ENSP00000512366.1:p.Val191=
ENST00000696064.1:c.343G= ENSP00000512367.1:p.Val115=
ENST00000696065.1:c.66-1382G= ENSP00000512368.1:n.66-1382G=
ENST00000696074.1:n.112G=
ENST00000696075.1:c.*466G= ENSP00000512374.1:n.*466G=
ENST00000696076.1:c.496G= ENSP00000512375.1:p.Val166=
ENST00000696077.1:c.493G= ENSP00000512376.1:p.Val165=
ENST00000696078.1:c.496G= ENSP00000512377.1:p.Val166=
ENST00000696079.1:c.496G= ENSP00000512378.1:p.Val166=
ENST00000696080.1:c.496G= ENSP00000512379.1:p.Val166=
ENST00000696081.1:n.615G=
ENST00000696082.1:c.574G= ENSP00000512380.1:p.Val192=
ENST00000696083.1:n.1377G=
ENST00000696084.1:n.597G=
ENST00000696104.1:c.363-1382G= ENSP00000512399.1:n.363-1382G=
ENST00000696105.1:c.*37G= ENSP00000512400.1:n.*37G=
ENST00000372874.9:c.496G= MANE Select ENSP00000361965.4:p.Val166=
ENST00000372874.8:c.496G= ENSP00000361965.4:p.Val166=
ENST00000464097.5:n.170G=
ENST00000492931.5:n.580G=
ENST00000536532.5:c.496G= ENSP00000440946.1:p.Val166=
ENST00000537820.1:c.496G= ENSP00000441818.1:p.Val166=
ENST00000539235.5:c.219-1234G= ENSP00000446464.1:n.219-1234G=
NM_000022.2:c.496G= , LRG_16t1:c.496G= NP_000013.2:p.Val166=
XM_005260236.2:c.496G= XP_005260293.1:p.Val166=
XM_011528478.1:c.91G= XP_011526780.1:p.Val31=
XM_011528479.1:c.91G= XP_011526781.1:p.Val31=
XR_244129.1:n.550G=
NM_000022.3:c.496G= NP_000013.2:p.Val166=
NM_001322050.1:c.91G= NP_001308979.1:p.Val31=
NM_001322051.1:c.496G= NP_001308980.1:p.Val166=
NR_136160.1:n.647G=
NM_000022.4:c.496G= MANE Select NP_000013.2:p.Val166=
NM_001322050.2:c.91G= NP_001308979.1:p.Val31=
NM_001322051.2:c.496G= NP_001308980.1:p.Val166=
NR_136160.2:n.588G=