Canonical Allele Identifier: CA409120420

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623030C>T , CM000682.2:g.44623030C>T GRCh38
NC_000020.10:g.43251671C>T , CM000682.1:g.43251671C>T GRCh37
NC_000020.9:g.42685085C>T NCBI36
NG_007385.1:g.33706G>A , LRG_16:g.33706G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.746G>A (ADA)
ENST00000536076.2:c.502G>A (ADA) ENSP00000512234.1:p.Gly168Ser
ENST00000536532.6:c.655G>A (ADA) ENSP00000440946.1:p.Gly219Ser
ENST00000537820.2:c.607-100G>A (ADA) ENSP00000441818.1:n.607-100G>A
ENST00000539235.6:c.*39G>A (ADA) ENSP00000446464.1:n.*39G>A
ENST00000695889.1:c.219-100G>A (ADA) ENSP00000512240.1:n.219-100G>A
ENST00000695890.1:n.2458G>A (ADA)
ENST00000695891.1:c.219-100G>A (ADA) ENSP00000512241.1:n.219-100G>A
ENST00000695927.1:c.733G>A (ADA) ENSP00000512270.1:p.Gly245Ser
ENST00000695949.1:c.604-100G>A (ADA) ENSP00000512281.1:n.604-100G>A
ENST00000695957.1:c.*146G>A (ADA) ENSP00000512286.1:n.*146G>A
ENST00000695991.1:c.217-100G>A (ADA) ENSP00000512314.1:n.217-100G>A
ENST00000695992.1:c.655G>A (ADA) ENSP00000512315.1:p.Gly219Ser
ENST00000695993.1:c.655G>A (ADA) ENSP00000512316.1:p.Gly219Ser
ENST00000695994.1:c.651+4G>A (ADA) ENSP00000512317.1:n.651+4G>A
ENST00000695995.1:c.265G>A (ADA) ENSP00000512318.1:p.Gly89Ser
ENST00000695996.1:n.726G>A (ADA)
ENST00000696003.1:n.747G>A (ADA)
ENST00000696004.1:n.747G>A (ADA)
ENST00000696005.1:c.129-100G>A (ADA)
ENST00000696006.1:c.607-100G>A (ADA) ENSP00000512325.1:n.607-100G>A
ENST00000696007.1:c.506G>A (ADA) ENSP00000512326.1:n.506G>A
ENST00000696008.1:n.2933G>A (ADA)
ENST00000696017.1:c.652G>A (ADA) ENSP00000512333.1:p.Gly218Ser
ENST00000696034.1:c.655G>A (ADA) ENSP00000512343.1:p.Gly219Ser
ENST00000696035.1:n.765G>A (ADA)
ENST00000696036.1:n.1345G>A (ADA)
ENST00000696037.1:n.2332G>A (ADA)
ENST00000696038.1:c.*401G>A (ADA) ENSP00000512344.1:n.*401G>A
ENST00000696039.1:n.943G>A (ADA)
ENST00000696058.1:c.652G>A (ADA) ENSP00000512361.1:p.Gly218Ser
ENST00000696059.1:c.*600G>A (ADA) ENSP00000512362.1:n.*600G>A
ENST00000696060.1:c.724G>A (ADA) ENSP00000512363.1:p.Gly242Ser
ENST00000696061.1:c.652G>A (ADA) ENSP00000512364.1:p.Gly218Ser
ENST00000696062.1:c.718G>A (ADA) ENSP00000512365.1:p.Gly240Ser
ENST00000696063.1:c.730G>A (ADA) ENSP00000512366.1:p.Gly244Ser
ENST00000696064.1:c.502G>A (ADA) ENSP00000512367.1:p.Gly168Ser
ENST00000696065.1:c.66-100G>A (ADA) ENSP00000512368.1:n.66-100G>A
ENST00000696073.1:n.890G>A (ADA)
ENST00000696074.1:n.271G>A (ADA)
ENST00000696075.1:c.*625G>A (ADA) ENSP00000512374.1:n.*625G>A
ENST00000696076.1:c.724G>A (ADA) ENSP00000512375.1:p.Gly242Ser
ENST00000696077.1:c.649G>A (ADA) ENSP00000512376.1:p.Gly217Ser
ENST00000696078.1:c.652G>A (ADA) ENSP00000512377.1:p.Gly218Ser
ENST00000696079.1:c.652G>A (ADA) ENSP00000512378.1:p.Gly218Ser
ENST00000696080.1:c.655G>A (ADA) ENSP00000512379.1:p.Gly219Ser
ENST00000696081.1:n.774G>A (ADA)
ENST00000696082.1:c.730G>A (ADA) ENSP00000512380.1:p.Gly244Ser
ENST00000696083.1:n.1536G>A (ADA)
ENST00000696084.1:n.756G>A (ADA)
ENST00000696104.1:c.363-100G>A (ADA) ENSP00000512399.1:n.363-100G>A
ENST00000696105.1:c.*196G>A (ADA) ENSP00000512400.1:n.*196G>A
ENST00000372874.9:c.655G>A (ADA) MANE Select ENSP00000361965.4:p.Gly219Ser
ENST00000372874.8:c.655G>A (ADA) ENSP00000361965.4:p.Gly219Ser
ENST00000372887.5:c.152-903C>T (PKIG) ENSP00000361978.1:n.152-903C>T
ENST00000464097.5:n.329G>A (ADA)
ENST00000492931.5:n.739G>A (ADA)
ENST00000536532.5:c.655G>A (ADA) ENSP00000440946.1:p.Gly219Ser
ENST00000537820.1:c.607-100G>A (ADA) ENSP00000441818.1:n.607-100G>A
ENST00000539235.5:c.*39G>A (ADA) ENSP00000446464.1:n.*39G>A
NM_000022.2:c.655G>A , LRG_16t1:c.655G>A (ADA) NP_000013.2:p.Gly219Ser
XM_005260236.2:c.607-100G>A (ADA) XP_005260293.1:n.607-100G>A
XM_011528478.1:c.250G>A (ADA) XP_011526780.1:p.Gly84Ser
XM_011528479.1:c.250G>A (ADA) XP_011526781.1:p.Gly84Ser
XR_244129.1:n.709G>A (ADA)
NM_000022.3:c.655G>A (ADA) NP_000013.2:p.Gly219Ser
NM_001322050.1:c.250G>A (ADA) NP_001308979.1:p.Gly84Ser
NM_001322051.1:c.607-100G>A (ADA) NP_001308980.1:n.607-100G>A
NR_136160.1:n.806G>A (ADA)
NM_000022.4:c.655G>A (ADA) MANE Select NP_000013.2:p.Gly219Ser
NM_001322050.2:c.250G>A (ADA) NP_001308979.1:p.Gly84Ser
NM_001322051.2:c.607-100G>A (ADA) NP_001308980.1:n.607-100G>A
NR_136160.2:n.747G>A (ADA)