Canonical Allele Identifier: CA2365857162
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625597G= , CM000682.2:g.44625597G= GRCh38
NC_000020.10:g.43254238G= , CM000682.1:g.43254238G= GRCh37
NC_000020.9:g.42687652G= NCBI36
NG_007385.1:g.31139C= , LRG_16:g.31139C=

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.541C=
ENST00000536076.2:c.297C= ENSP00000512234.1:p.Ser99=
ENST00000536532.6:c.450C= ENSP00000440946.1:p.Ser150=
ENST00000537820.2:c.450C= ENSP00000441818.1:p.Ser150=
ENST00000539235.6:c.219-2519C= ENSP00000446464.1:n.219-2519C=
ENST00000695889.1:c.219-2667C= ENSP00000512240.1:n.219-2667C=
ENST00000695890.1:n.2253C=
ENST00000695891.1:c.219-2667C= ENSP00000512241.1:n.219-2667C=
ENST00000695927.1:c.528C= ENSP00000512270.1:p.Ser176=
ENST00000695949.1:c.447C= ENSP00000512281.1:p.Ser149=
ENST00000695957.1:c.362+859C= ENSP00000512286.1:n.362+859C=
ENST00000695991.1:c.217-2667C= ENSP00000512314.1:n.217-2667C=
ENST00000695992.1:c.450C= ENSP00000512315.1:p.Ser150=
ENST00000695993.1:c.450C= ENSP00000512316.1:p.Ser150=
ENST00000695994.1:c.450C= ENSP00000512317.1:p.Ser150=
ENST00000695995.1:c.217-2519C= ENSP00000512318.1:n.217-2519C=
ENST00000695996.1:n.521C=
ENST00000695997.1:n.433+859C=
ENST00000696003.1:n.542C=
ENST00000696004.1:n.542C=
ENST00000696006.1:c.450C= ENSP00000512325.1:p.Ser150=
ENST00000696007.1:c.329+859C= ENSP00000512326.1:n.329+859C=
ENST00000696008.1:n.366C=
ENST00000696009.1:n.561C=
ENST00000696017.1:c.447C= ENSP00000512333.1:p.Ser149=
ENST00000696034.1:c.450C= ENSP00000512343.1:p.Ser150=
ENST00000696035.1:n.560C=
ENST00000696036.1:n.1140C=
ENST00000696037.1:n.2127C=
ENST00000696038.1:c.*196C= ENSP00000512344.1:n.*196C=
ENST00000696039.1:n.738C=
ENST00000696058.1:c.450C= ENSP00000512361.1:p.Ser150=
ENST00000696059.1:c.*395C= ENSP00000512362.1:n.*395C=
ENST00000696060.1:c.450C= ENSP00000512363.1:p.Ser150=
ENST00000696061.1:c.447C= ENSP00000512364.1:p.Ser149=
ENST00000696062.1:c.513C= ENSP00000512365.1:p.Ser171=
ENST00000696063.1:c.525C= ENSP00000512366.1:p.Ser175=
ENST00000696064.1:c.297C= ENSP00000512367.1:p.Ser99=
ENST00000696065.1:c.66-2667C= ENSP00000512368.1:n.66-2667C=
ENST00000696075.1:c.*420C= ENSP00000512374.1:n.*420C=
ENST00000696076.1:c.450C= ENSP00000512375.1:p.Ser150=
ENST00000696077.1:c.447C= ENSP00000512376.1:p.Ser149=
ENST00000696078.1:c.450C= ENSP00000512377.1:p.Ser150=
ENST00000696079.1:c.450C= ENSP00000512378.1:p.Ser150=
ENST00000696080.1:c.450C= ENSP00000512379.1:p.Ser150=
ENST00000696082.1:c.528C= ENSP00000512380.1:p.Ser176=
ENST00000696083.1:n.92C=
ENST00000696084.1:n.551C=
ENST00000696104.1:c.362+859C= ENSP00000512399.1:n.362+859C=
ENST00000696105.1:c.450C= ENSP00000512400.1:p.Ser150=
ENST00000372874.9:c.450C= MANE Select ENSP00000361965.4:p.Ser150=
ENST00000372874.8:c.450C= ENSP00000361965.4:p.Ser150=
ENST00000464097.5:n.124C=
ENST00000492931.5:n.534C=
ENST00000536532.5:c.450C= ENSP00000440946.1:p.Ser150=
ENST00000537820.1:c.450C= ENSP00000441818.1:p.Ser150=
ENST00000539235.5:c.219-2519C= ENSP00000446464.1:n.219-2519C=
NM_000022.2:c.450C= , LRG_16t1:c.450C= NP_000013.2:p.Ser150=
XM_005260236.2:c.450C= XP_005260293.1:p.Ser150=
XM_011528478.1:c.73+859C= XP_011526780.1:n.73+859C=
XM_011528479.1:c.73+859C= XP_011526781.1:n.73+859C=
XR_244129.1:n.504C=
NM_000022.3:c.450C= NP_000013.2:p.Ser150=
NM_001322050.1:c.73+859C= NP_001308979.1:n.73+859C=
NM_001322051.1:c.450C= NP_001308980.1:p.Ser150=
NR_136160.1:n.601C=
NM_000022.4:c.450C= MANE Select NP_000013.2:p.Ser150=
NM_001322050.2:c.73+859C= NP_001308979.1:n.73+859C=
NM_001322051.2:c.450C= NP_001308980.1:p.Ser150=
NR_136160.2:n.542C=