Canonical Allele Identifier: CA409120908
Gene: ADA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624286C>A , CM000682.2:g.44624286C>A GRCh38
NC_000020.10:g.43252927C>A , CM000682.1:g.43252927C>A GRCh37
NC_000020.9:g.42686341C>A NCBI36
NG_007385.1:g.32450G>T , LRG_16:g.32450G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.613G>T
ENST00000536076.2:c.369G>T ENSP00000512234.1:p.Gln123His
ENST00000536532.6:c.522G>T ENSP00000440946.1:p.Gln174His
ENST00000537820.2:c.522G>T ENSP00000441818.1:p.Gln174His
ENST00000539235.6:c.219-1208G>T ENSP00000446464.1:n.219-1208G>T
ENST00000695889.1:c.219-1356G>T ENSP00000512240.1:n.219-1356G>T
ENST00000695890.1:n.2325G>T
ENST00000695891.1:c.219-1356G>T ENSP00000512241.1:n.219-1356G>T
ENST00000695927.1:c.600G>T ENSP00000512270.1:p.Gln200His
ENST00000695949.1:c.519G>T ENSP00000512281.1:p.Gln173His
ENST00000695957.1:c.*13G>T ENSP00000512286.1:n.*13G>T
ENST00000695991.1:c.217-1356G>T ENSP00000512314.1:n.217-1356G>T
ENST00000695992.1:c.522G>T ENSP00000512315.1:p.Gln174His
ENST00000695993.1:c.522G>T ENSP00000512316.1:p.Gln174His
ENST00000695994.1:c.522G>T ENSP00000512317.1:p.Gln174His
ENST00000695995.1:c.217-1208G>T ENSP00000512318.1:n.217-1208G>T
ENST00000695996.1:n.593G>T
ENST00000695997.1:n.477G>T
ENST00000696003.1:n.614G>T
ENST00000696004.1:n.614G>T
ENST00000696005.1:c.44G>T
ENST00000696006.1:c.522G>T ENSP00000512325.1:p.Gln174His
ENST00000696007.1:c.373G>T ENSP00000512326.1:n.373G>T
ENST00000696008.1:n.1677G>T
ENST00000696009.1:n.1872G>T
ENST00000696017.1:c.519G>T ENSP00000512333.1:p.Gln173His
ENST00000696034.1:c.522G>T ENSP00000512343.1:p.Gln174His
ENST00000696035.1:n.632G>T
ENST00000696036.1:n.1212G>T
ENST00000696037.1:n.2199G>T
ENST00000696038.1:c.*268G>T ENSP00000512344.1:n.*268G>T
ENST00000696039.1:n.810G>T
ENST00000696058.1:c.522G>T ENSP00000512361.1:p.Gln174His
ENST00000696059.1:c.*467G>T ENSP00000512362.1:n.*467G>T
ENST00000696060.1:c.522G>T ENSP00000512363.1:p.Gln174His
ENST00000696061.1:c.519G>T ENSP00000512364.1:p.Gln173His
ENST00000696062.1:c.585G>T ENSP00000512365.1:p.Gln195His
ENST00000696063.1:c.597G>T ENSP00000512366.1:p.Gln199His
ENST00000696064.1:c.369G>T ENSP00000512367.1:p.Gln123His
ENST00000696065.1:c.66-1356G>T ENSP00000512368.1:n.66-1356G>T
ENST00000696074.1:n.138G>T
ENST00000696075.1:c.*492G>T ENSP00000512374.1:n.*492G>T
ENST00000696076.1:c.522G>T ENSP00000512375.1:p.Gln174His
ENST00000696077.1:c.519G>T ENSP00000512376.1:p.Gln173His
ENST00000696078.1:c.522G>T ENSP00000512377.1:p.Gln174His
ENST00000696079.1:c.522G>T ENSP00000512378.1:p.Gln174His
ENST00000696080.1:c.522G>T ENSP00000512379.1:p.Gln174His
ENST00000696081.1:n.641G>T
ENST00000696082.1:c.600G>T ENSP00000512380.1:p.Gln200His
ENST00000696083.1:n.1403G>T
ENST00000696084.1:n.623G>T
ENST00000696104.1:c.363-1356G>T ENSP00000512399.1:n.363-1356G>T
ENST00000696105.1:c.*63G>T ENSP00000512400.1:n.*63G>T
ENST00000372874.9:c.522G>T MANE Select ENSP00000361965.4:p.Gln174His
ENST00000372874.8:c.522G>T ENSP00000361965.4:p.Gln174His
ENST00000464097.5:n.196G>T
ENST00000492931.5:n.606G>T
ENST00000536532.5:c.522G>T ENSP00000440946.1:p.Gln174His
ENST00000537820.1:c.522G>T ENSP00000441818.1:p.Gln174His
ENST00000539235.5:c.219-1208G>T ENSP00000446464.1:n.219-1208G>T
NM_000022.2:c.522G>T , LRG_16t1:c.522G>T NP_000013.2:p.Gln174His
XM_005260236.2:c.522G>T XP_005260293.1:p.Gln174His
XM_011528478.1:c.117G>T XP_011526780.1:p.Gln39His
XM_011528479.1:c.117G>T XP_011526781.1:p.Gln39His
XR_244129.1:n.576G>T
NM_000022.3:c.522G>T NP_000013.2:p.Gln174His
NM_001322050.1:c.117G>T NP_001308979.1:p.Gln39His
NM_001322051.1:c.522G>T NP_001308980.1:p.Gln174His
NR_136160.1:n.673G>T
NM_000022.4:c.522G>T MANE Select NP_000013.2:p.Gln174His
NM_001322050.2:c.117G>T NP_001308979.1:p.Gln39His
NM_001322051.2:c.522G>T NP_001308980.1:p.Gln174His
NR_136160.2:n.614G>T