Canonical Allele Identifier: CA409120778

Linked Data

dbSNP Id: rs1272995596

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624224G>C , CM000682.2:g.44624224G>C GRCh38
NC_000020.10:g.43252865G>C , CM000682.1:g.43252865G>C GRCh37
NC_000020.9:g.42686279G>C NCBI36
NG_007385.1:g.32512C>G , LRG_16:g.32512C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.675C>G (ADA)
ENST00000536076.2:c.431C>G (ADA) ENSP00000512234.1:p.Pro144Arg
ENST00000536532.6:c.584C>G (ADA) ENSP00000440946.1:p.Pro195Arg
ENST00000537820.2:c.584C>G (ADA) ENSP00000441818.1:p.Pro195Arg
ENST00000539235.6:c.219-1146C>G (ADA) ENSP00000446464.1:n.219-1146C>G
ENST00000695889.1:c.219-1294C>G (ADA) ENSP00000512240.1:n.219-1294C>G
ENST00000695890.1:n.2387C>G (ADA)
ENST00000695891.1:c.219-1294C>G (ADA) ENSP00000512241.1:n.219-1294C>G
ENST00000695927.1:c.662C>G (ADA) ENSP00000512270.1:p.Pro221Arg
ENST00000695949.1:c.581C>G (ADA) ENSP00000512281.1:p.Pro194Arg
ENST00000695957.1:c.*75C>G (ADA) ENSP00000512286.1:n.*75C>G
ENST00000695991.1:c.217-1294C>G (ADA) ENSP00000512314.1:n.217-1294C>G
ENST00000695992.1:c.584C>G (ADA) ENSP00000512315.1:p.Pro195Arg
ENST00000695993.1:c.584C>G (ADA) ENSP00000512316.1:p.Pro195Arg
ENST00000695994.1:c.584C>G (ADA) ENSP00000512317.1:p.Pro195Arg
ENST00000695995.1:c.217-1146C>G (ADA) ENSP00000512318.1:n.217-1146C>G
ENST00000695996.1:n.655C>G (ADA)
ENST00000695997.1:n.539C>G (ADA)
ENST00000696003.1:n.676C>G (ADA)
ENST00000696004.1:n.676C>G (ADA)
ENST00000696005.1:c.106C>G (ADA)
ENST00000696006.1:c.584C>G (ADA) ENSP00000512325.1:p.Pro195Arg
ENST00000696007.1:c.435C>G (ADA) ENSP00000512326.1:n.435C>G
ENST00000696008.1:n.1739C>G (ADA)
ENST00000696009.1:n.1934C>G (ADA)
ENST00000696017.1:c.581C>G (ADA) ENSP00000512333.1:p.Pro194Arg
ENST00000696034.1:c.584C>G (ADA) ENSP00000512343.1:p.Pro195Arg
ENST00000696035.1:n.694C>G (ADA)
ENST00000696036.1:n.1274C>G (ADA)
ENST00000696037.1:n.2261C>G (ADA)
ENST00000696038.1:c.*330C>G (ADA) ENSP00000512344.1:n.*330C>G
ENST00000696039.1:n.872C>G (ADA)
ENST00000696058.1:c.584C>G (ADA) ENSP00000512361.1:p.Pro195Arg
ENST00000696059.1:c.*529C>G (ADA) ENSP00000512362.1:n.*529C>G
ENST00000696060.1:c.584C>G (ADA) ENSP00000512363.1:p.Pro195Arg
ENST00000696061.1:c.581C>G (ADA) ENSP00000512364.1:p.Pro194Arg
ENST00000696062.1:c.647C>G (ADA) ENSP00000512365.1:p.Pro216Arg
ENST00000696063.1:c.659C>G (ADA) ENSP00000512366.1:p.Pro220Arg
ENST00000696064.1:c.431C>G (ADA) ENSP00000512367.1:p.Pro144Arg
ENST00000696065.1:c.66-1294C>G (ADA) ENSP00000512368.1:n.66-1294C>G
ENST00000696074.1:n.200C>G (ADA)
ENST00000696075.1:c.*554C>G (ADA) ENSP00000512374.1:n.*554C>G
ENST00000696076.1:c.584C>G (ADA) ENSP00000512375.1:p.Pro195Arg
ENST00000696077.1:c.581C>G (ADA) ENSP00000512376.1:p.Pro194Arg
ENST00000696078.1:c.584C>G (ADA) ENSP00000512377.1:p.Pro195Arg
ENST00000696079.1:c.584C>G (ADA) ENSP00000512378.1:p.Pro195Arg
ENST00000696080.1:c.584C>G (ADA) ENSP00000512379.1:p.Pro195Arg
ENST00000696081.1:n.703C>G (ADA)
ENST00000696082.1:c.662C>G (ADA) ENSP00000512380.1:p.Pro221Arg
ENST00000696083.1:n.1465C>G (ADA)
ENST00000696084.1:n.685C>G (ADA)
ENST00000696104.1:c.363-1294C>G (ADA) ENSP00000512399.1:n.363-1294C>G
ENST00000696105.1:c.*125C>G (ADA) ENSP00000512400.1:n.*125C>G
ENST00000372874.9:c.584C>G (ADA) MANE Select ENSP00000361965.4:p.Pro195Arg
ENST00000372874.8:c.584C>G (ADA) ENSP00000361965.4:p.Pro195Arg
ENST00000372887.5:c.*248G>C (PKIG) ENSP00000361978.1:n.*248G>C
ENST00000464097.5:n.258C>G (ADA)
ENST00000492931.5:n.668C>G (ADA)
ENST00000536532.5:c.584C>G (ADA) ENSP00000440946.1:p.Pro195Arg
ENST00000537820.1:c.584C>G (ADA) ENSP00000441818.1:p.Pro195Arg
ENST00000539235.5:c.219-1146C>G (ADA) ENSP00000446464.1:n.219-1146C>G
NM_000022.2:c.584C>G , LRG_16t1:c.584C>G (ADA) NP_000013.2:p.Pro195Arg
XM_005260236.2:c.584C>G (ADA) XP_005260293.1:p.Pro195Arg
XM_011528478.1:c.179C>G (ADA) XP_011526780.1:p.Pro60Arg
XM_011528479.1:c.179C>G (ADA) XP_011526781.1:p.Pro60Arg
XR_244129.1:n.638C>G (ADA)
NM_000022.3:c.584C>G (ADA) NP_000013.2:p.Pro195Arg
NM_001322050.1:c.179C>G (ADA) NP_001308979.1:p.Pro60Arg
NM_001322051.1:c.584C>G (ADA) NP_001308980.1:p.Pro195Arg
NR_136160.1:n.735C>G (ADA)
NM_000022.4:c.584C>G (ADA) MANE Select NP_000013.2:p.Pro195Arg
NM_001322050.2:c.179C>G (ADA) NP_001308979.1:p.Pro60Arg
NM_001322051.2:c.584C>G (ADA) NP_001308980.1:p.Pro195Arg
NR_136160.2:n.676C>G (ADA)