Canonical Allele Identifier: CA409120513

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623075C>T , CM000682.2:g.44623075C>T GRCh38
NC_000020.10:g.43251716C>T , CM000682.1:g.43251716C>T GRCh37
NC_000020.9:g.42685130C>T NCBI36
NG_007385.1:g.33661G>A , LRG_16:g.33661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.701G>A (ADA)
ENST00000536076.2:c.457G>A (ADA) ENSP00000512234.1:p.Ala153Thr
ENST00000536532.6:c.610G>A (ADA) ENSP00000440946.1:p.Ala204Thr
ENST00000537820.2:c.607-145G>A (ADA) ENSP00000441818.1:n.607-145G>A
ENST00000539235.6:c.222G>A (ADA) ENSP00000446464.1:p.Arg74=
ENST00000695889.1:c.219-145G>A (ADA) ENSP00000512240.1:n.219-145G>A
ENST00000695890.1:n.2413G>A (ADA)
ENST00000695891.1:c.219-145G>A (ADA) ENSP00000512241.1:n.219-145G>A
ENST00000695927.1:c.688G>A (ADA) ENSP00000512270.1:p.Ala230Thr
ENST00000695949.1:c.604-145G>A (ADA) ENSP00000512281.1:n.604-145G>A
ENST00000695957.1:c.*101G>A (ADA) ENSP00000512286.1:n.*101G>A
ENST00000695991.1:c.217-145G>A (ADA) ENSP00000512314.1:n.217-145G>A
ENST00000695992.1:c.610G>A (ADA) ENSP00000512315.1:p.Ala204Thr
ENST00000695993.1:c.610G>A (ADA) ENSP00000512316.1:p.Ala204Thr
ENST00000695994.1:c.610G>A (ADA) ENSP00000512317.1:p.Ala204Thr
ENST00000695995.1:c.220G>A (ADA) ENSP00000512318.1:p.Ala74Thr
ENST00000695996.1:n.681G>A (ADA)
ENST00000696003.1:n.702G>A (ADA)
ENST00000696004.1:n.702G>A (ADA)
ENST00000696005.1:c.129-145G>A (ADA)
ENST00000696006.1:c.607-145G>A (ADA) ENSP00000512325.1:n.607-145G>A
ENST00000696007.1:c.461G>A (ADA) ENSP00000512326.1:n.461G>A
ENST00000696008.1:n.2888G>A (ADA)
ENST00000696017.1:c.607G>A (ADA) ENSP00000512333.1:p.Ala203Thr
ENST00000696034.1:c.610G>A (ADA) ENSP00000512343.1:p.Ala204Thr
ENST00000696035.1:n.720G>A (ADA)
ENST00000696036.1:n.1300G>A (ADA)
ENST00000696037.1:n.2287G>A (ADA)
ENST00000696038.1:c.*356G>A (ADA) ENSP00000512344.1:n.*356G>A
ENST00000696039.1:n.898G>A (ADA)
ENST00000696058.1:c.607G>A (ADA) ENSP00000512361.1:p.Ala203Thr
ENST00000696059.1:c.*555G>A (ADA) ENSP00000512362.1:n.*555G>A
ENST00000696060.1:c.679G>A (ADA) ENSP00000512363.1:p.Ala227Thr
ENST00000696061.1:c.607G>A (ADA) ENSP00000512364.1:p.Ala203Thr
ENST00000696062.1:c.673G>A (ADA) ENSP00000512365.1:p.Ala225Thr
ENST00000696063.1:c.685G>A (ADA) ENSP00000512366.1:p.Ala229Thr
ENST00000696064.1:c.457G>A (ADA) ENSP00000512367.1:p.Ala153Thr
ENST00000696065.1:c.66-145G>A (ADA) ENSP00000512368.1:n.66-145G>A
ENST00000696073.1:n.845G>A (ADA)
ENST00000696074.1:n.226G>A (ADA)
ENST00000696075.1:c.*580G>A (ADA) ENSP00000512374.1:n.*580G>A
ENST00000696076.1:c.679G>A (ADA) ENSP00000512375.1:p.Ala227Thr
ENST00000696077.1:c.604G>A (ADA) ENSP00000512376.1:p.Ala202Thr
ENST00000696078.1:c.607G>A (ADA) ENSP00000512377.1:p.Ala203Thr
ENST00000696079.1:c.607G>A (ADA) ENSP00000512378.1:p.Ala203Thr
ENST00000696080.1:c.610G>A (ADA) ENSP00000512379.1:p.Ala204Thr
ENST00000696081.1:n.729G>A (ADA)
ENST00000696082.1:c.685G>A (ADA) ENSP00000512380.1:p.Ala229Thr
ENST00000696083.1:n.1491G>A (ADA)
ENST00000696084.1:n.711G>A (ADA)
ENST00000696104.1:c.363-145G>A (ADA) ENSP00000512399.1:n.363-145G>A
ENST00000696105.1:c.*151G>A (ADA) ENSP00000512400.1:n.*151G>A
ENST00000372874.9:c.610G>A (ADA) MANE Select ENSP00000361965.4:p.Ala204Thr
ENST00000372874.8:c.610G>A (ADA) ENSP00000361965.4:p.Ala204Thr
ENST00000372887.5:c.152-858C>T (PKIG) ENSP00000361978.1:n.152-858C>T
ENST00000464097.5:n.284G>A (ADA)
ENST00000492931.5:n.694G>A (ADA)
ENST00000536532.5:c.610G>A (ADA) ENSP00000440946.1:p.Ala204Thr
ENST00000537820.1:c.607-145G>A (ADA) ENSP00000441818.1:n.607-145G>A
ENST00000539235.5:c.222G>A (ADA) ENSP00000446464.1:p.Arg74=
NM_000022.2:c.610G>A , LRG_16t1:c.610G>A (ADA) NP_000013.2:p.Ala204Thr
XM_005260236.2:c.607-145G>A (ADA) XP_005260293.1:n.607-145G>A
XM_011528478.1:c.205G>A (ADA) XP_011526780.1:p.Ala69Thr
XM_011528479.1:c.205G>A (ADA) XP_011526781.1:p.Ala69Thr
XR_244129.1:n.664G>A (ADA)
NM_000022.3:c.610G>A (ADA) NP_000013.2:p.Ala204Thr
NM_001322050.1:c.205G>A (ADA) NP_001308979.1:p.Ala69Thr
NM_001322051.1:c.607-145G>A (ADA) NP_001308980.1:n.607-145G>A
NR_136160.1:n.761G>A (ADA)
NM_000022.4:c.610G>A (ADA) MANE Select NP_000013.2:p.Ala204Thr
NM_001322050.2:c.205G>A (ADA) NP_001308979.1:p.Ala69Thr
NM_001322051.2:c.607-145G>A (ADA) NP_001308980.1:n.607-145G>A
NR_136160.2:n.702G>A (ADA)