Canonical Allele Identifier: CA409118659

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620388G>T , CM000682.2:g.44620388G>T GRCh38
NC_000020.10:g.43249029G>T , CM000682.1:g.43249029G>T GRCh37
NC_000020.9:g.42682443G>T NCBI36
NG_007385.1:g.36348C>A , LRG_16:g.36348C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1156C>A (ADA)
ENST00000536076.2:c.836C>A (ADA) ENSP00000512234.1:p.Ala279Asp
ENST00000536532.6:c.*132C>A (ADA) ENSP00000440946.1:n.*132C>A
ENST00000537820.2:c.917C>A (ADA) ENSP00000441818.1:p.Ala306Asp
ENST00000539235.6:c.*373C>A (ADA) ENSP00000446464.1:n.*373C>A
ENST00000695889.1:c.464C>A (ADA) ENSP00000512240.1:p.Ala155Asp
ENST00000695890.1:n.5100C>A (ADA)
ENST00000695891.1:c.529C>A (ADA) ENSP00000512241.1:n.529C>A
ENST00000695927.1:c.1067C>A (ADA) ENSP00000512270.1:p.Ala356Asp
ENST00000695949.1:c.914C>A (ADA) ENSP00000512281.1:p.Ala305Asp
ENST00000695956.1:c.144C>A (ADA)
ENST00000695957.1:c.*480C>A (ADA) ENSP00000512286.1:n.*480C>A
ENST00000695991.1:c.527C>A (ADA) ENSP00000512314.1:p.Ala176Asp
ENST00000695992.1:c.*132C>A (ADA) ENSP00000512315.1:n.*132C>A
ENST00000695993.1:c.989C>A (ADA) ENSP00000512316.1:p.Ala330Asp
ENST00000695994.1:c.*132C>A (ADA) ENSP00000512317.1:n.*132C>A
ENST00000695995.1:c.599C>A (ADA) ENSP00000512318.1:p.Ala200Asp
ENST00000695996.1:n.1071C>A (ADA)
ENST00000696003.1:n.2773C>A (ADA)
ENST00000696004.1:n.1773C>A (ADA)
ENST00000696005.1:c.439C>A (ADA)
ENST00000696006.1:c.*132C>A (ADA) ENSP00000512325.1:n.*132C>A
ENST00000696007.1:c.916C>A (ADA) ENSP00000512326.1:n.916C>A
ENST00000696008.1:n.3343C>A (ADA)
ENST00000696017.1:c.986C>A (ADA) ENSP00000512333.1:p.Ala329Asp
ENST00000696034.1:c.*132C>A (ADA) ENSP00000512343.1:n.*132C>A
ENST00000696035.1:n.1175C>A (ADA)
ENST00000696036.1:n.1690C>A (ADA)
ENST00000696037.1:n.2666C>A (ADA)
ENST00000696038.1:c.*746C>A (ADA) ENSP00000512344.1:n.*746C>A
ENST00000696039.1:n.1353C>A (ADA)
ENST00000696058.1:c.986C>A (ADA) ENSP00000512361.1:p.Ala329Asp
ENST00000696059.1:c.*934C>A (ADA) ENSP00000512362.1:n.*934C>A
ENST00000696060.1:c.1058C>A (ADA) ENSP00000512363.1:p.Ala353Asp
ENST00000696061.1:c.986C>A (ADA) ENSP00000512364.1:p.Ala329Asp
ENST00000696062.1:c.1052C>A (ADA) ENSP00000512365.1:p.Ala351Asp
ENST00000696063.1:c.1064C>A (ADA) ENSP00000512366.1:p.Ala355Asp
ENST00000696064.1:c.836C>A (ADA) ENSP00000512367.1:p.Ala279Asp
ENST00000696065.1:c.311C>A (ADA) ENSP00000512368.1:p.Ala104Asp
ENST00000696072.1:n.344C>A (ADA)
ENST00000696073.1:n.1300C>A (ADA)
ENST00000696074.1:n.540C>A (ADA)
ENST00000696075.1:c.*959C>A (ADA) ENSP00000512374.1:n.*959C>A
ENST00000696076.1:c.1058C>A (ADA) ENSP00000512375.1:p.Ala353Asp
ENST00000696077.1:c.983C>A (ADA) ENSP00000512376.1:p.Ala328Asp
ENST00000696078.1:c.986C>A (ADA) ENSP00000512377.1:p.Ala329Asp
ENST00000696079.1:c.986C>A (ADA) ENSP00000512378.1:p.Ala329Asp
ENST00000696080.1:c.989C>A (ADA) ENSP00000512379.1:p.Ala330Asp
ENST00000696081.1:n.1108C>A (ADA)
ENST00000696082.1:c.1064C>A (ADA) ENSP00000512380.1:p.Ala355Asp
ENST00000696083.1:n.1946C>A (ADA)
ENST00000696084.1:n.1166C>A (ADA)
ENST00000696104.1:c.*58C>A (ADA) ENSP00000512399.1:n.*58C>A
ENST00000372874.9:c.989C>A (ADA) MANE Select ENSP00000361965.4:p.Ala330Asp
ENST00000372874.8:c.989C>A (ADA) ENSP00000361965.4:p.Ala330Asp
ENST00000372887.5:c.152-3545G>T (PKIG) ENSP00000361978.1:n.152-3545G>T
ENST00000464097.5:n.1355C>A (ADA)
ENST00000492931.5:n.1149C>A (ADA)
ENST00000536532.5:c.*132C>A (ADA) ENSP00000440946.1:n.*132C>A
ENST00000537820.1:c.917C>A (ADA) ENSP00000441818.1:p.Ala306Asp
ENST00000539235.5:c.*373C>A (ADA) ENSP00000446464.1:n.*373C>A
NM_000022.2:c.989C>A , LRG_16t1:c.989C>A (ADA) NP_000013.2:p.Ala330Asp
XM_005260236.2:c.917C>A (ADA) XP_005260293.1:p.Ala306Asp
XM_011528478.1:c.584C>A (ADA) XP_011526780.1:p.Ala195Asp
XM_011528479.1:c.584C>A (ADA) XP_011526781.1:p.Ala195Asp
XR_244129.1:n.978C>A (ADA)
NM_000022.3:c.989C>A (ADA) NP_000013.2:p.Ala330Asp
NM_001322050.1:c.584C>A (ADA) NP_001308979.1:p.Ala195Asp
NM_001322051.1:c.917C>A (ADA) NP_001308980.1:p.Ala306Asp
NR_136160.1:n.1075C>A (ADA)
NM_000022.4:c.989C>A (ADA) MANE Select NP_000013.2:p.Ala330Asp
NM_001322050.2:c.584C>A (ADA) NP_001308979.1:p.Ala195Asp
NM_001322051.2:c.917C>A (ADA) NP_001308980.1:p.Ala306Asp
NR_136160.2:n.1016C>A (ADA)