Canonical Allele Identifier: CA2365857156
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625591C= , CM000682.2:g.44625591C= GRCh38
NC_000020.10:g.43254232C= , CM000682.1:g.43254232C= GRCh37
NC_000020.9:g.42687646C= NCBI36
NG_007385.1:g.31145G= , LRG_16:g.31145G=

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.547G=
ENST00000536076.2:c.303G= ENSP00000512234.1:p.Leu101=
ENST00000536532.6:c.456G= ENSP00000440946.1:p.Leu152=
ENST00000537820.2:c.456G= ENSP00000441818.1:p.Leu152=
ENST00000539235.6:c.219-2513G= ENSP00000446464.1:n.219-2513G=
ENST00000695889.1:c.219-2661G= ENSP00000512240.1:n.219-2661G=
ENST00000695890.1:n.2259G=
ENST00000695891.1:c.219-2661G= ENSP00000512241.1:n.219-2661G=
ENST00000695927.1:c.534G= ENSP00000512270.1:p.Leu178=
ENST00000695949.1:c.453G= ENSP00000512281.1:p.Leu151=
ENST00000695957.1:c.362+865G= ENSP00000512286.1:n.362+865G=
ENST00000695991.1:c.217-2661G= ENSP00000512314.1:n.217-2661G=
ENST00000695992.1:c.456G= ENSP00000512315.1:p.Leu152=
ENST00000695993.1:c.456G= ENSP00000512316.1:p.Leu152=
ENST00000695994.1:c.456G= ENSP00000512317.1:p.Leu152=
ENST00000695995.1:c.217-2513G= ENSP00000512318.1:n.217-2513G=
ENST00000695996.1:n.527G=
ENST00000695997.1:n.433+865G=
ENST00000696003.1:n.548G=
ENST00000696004.1:n.548G=
ENST00000696006.1:c.456G= ENSP00000512325.1:p.Leu152=
ENST00000696007.1:c.329+865G= ENSP00000512326.1:n.329+865G=
ENST00000696008.1:n.372G=
ENST00000696009.1:n.567G=
ENST00000696017.1:c.453G= ENSP00000512333.1:p.Leu151=
ENST00000696034.1:c.456G= ENSP00000512343.1:p.Leu152=
ENST00000696035.1:n.566G=
ENST00000696036.1:n.1146G=
ENST00000696037.1:n.2133G=
ENST00000696038.1:c.*202G= ENSP00000512344.1:n.*202G=
ENST00000696039.1:n.744G=
ENST00000696058.1:c.456G= ENSP00000512361.1:p.Leu152=
ENST00000696059.1:c.*401G= ENSP00000512362.1:n.*401G=
ENST00000696060.1:c.456G= ENSP00000512363.1:p.Leu152=
ENST00000696061.1:c.453G= ENSP00000512364.1:p.Leu151=
ENST00000696062.1:c.519G= ENSP00000512365.1:p.Leu173=
ENST00000696063.1:c.531G= ENSP00000512366.1:p.Leu177=
ENST00000696064.1:c.303G= ENSP00000512367.1:p.Leu101=
ENST00000696065.1:c.66-2661G= ENSP00000512368.1:n.66-2661G=
ENST00000696075.1:c.*426G= ENSP00000512374.1:n.*426G=
ENST00000696076.1:c.456G= ENSP00000512375.1:p.Leu152=
ENST00000696077.1:c.453G= ENSP00000512376.1:p.Leu151=
ENST00000696078.1:c.456G= ENSP00000512377.1:p.Leu152=
ENST00000696079.1:c.456G= ENSP00000512378.1:p.Leu152=
ENST00000696080.1:c.456G= ENSP00000512379.1:p.Leu152=
ENST00000696082.1:c.534G= ENSP00000512380.1:p.Leu178=
ENST00000696083.1:n.98G=
ENST00000696084.1:n.557G=
ENST00000696104.1:c.362+865G= ENSP00000512399.1:n.362+865G=
ENST00000696105.1:c.456G= ENSP00000512400.1:p.Leu152=
ENST00000372874.9:c.456G= MANE Select ENSP00000361965.4:p.Leu152=
ENST00000372874.8:c.456G= ENSP00000361965.4:p.Leu152=
ENST00000464097.5:n.130G=
ENST00000492931.5:n.540G=
ENST00000536532.5:c.456G= ENSP00000440946.1:p.Leu152=
ENST00000537820.1:c.456G= ENSP00000441818.1:p.Leu152=
ENST00000539235.5:c.219-2513G= ENSP00000446464.1:n.219-2513G=
NM_000022.2:c.456G= , LRG_16t1:c.456G= NP_000013.2:p.Leu152=
XM_005260236.2:c.456G= XP_005260293.1:p.Leu152=
XM_011528478.1:c.73+865G= XP_011526780.1:n.73+865G=
XM_011528479.1:c.73+865G= XP_011526781.1:n.73+865G=
XR_244129.1:n.510G=
NM_000022.3:c.456G= NP_000013.2:p.Leu152=
NM_001322050.1:c.73+865G= NP_001308979.1:n.73+865G=
NM_001322051.1:c.456G= NP_001308980.1:p.Leu152=
NR_136160.1:n.607G=
NM_000022.4:c.456G= MANE Select NP_000013.2:p.Leu152=
NM_001322050.2:c.73+865G= NP_001308979.1:n.73+865G=
NM_001322051.2:c.456G= NP_001308980.1:p.Leu152=
NR_136160.2:n.548G=