Canonical Allele Identifier: CA2736986130

Linked Data

dbSNP Id: rs2123519542

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623146T>C , CM000682.2:g.44623146T>C GRCh38
NC_000020.10:g.43251787T>C , CM000682.1:g.43251787T>C GRCh37
NC_000020.9:g.42685201T>C NCBI36
NG_007385.1:g.33590A>G , LRG_16:g.33590A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.698-68A>G (ADA)
ENST00000536076.2:c.454-68A>G (ADA) ENSP00000512234.1:n.454-68A>G
ENST00000536532.6:c.607-68A>G (ADA) ENSP00000440946.1:n.607-68A>G
ENST00000537820.2:c.607-216A>G (ADA) ENSP00000441818.1:n.607-216A>G
ENST00000539235.6:c.219-68A>G (ADA) ENSP00000446464.1:n.219-68A>G
ENST00000695889.1:c.219-216A>G (ADA) ENSP00000512240.1:n.219-216A>G
ENST00000695890.1:n.2410-68A>G (ADA)
ENST00000695891.1:c.219-216A>G (ADA) ENSP00000512241.1:n.219-216A>G
ENST00000695927.1:c.685-68A>G (ADA) ENSP00000512270.1:n.685-68A>G
ENST00000695949.1:c.604-216A>G (ADA) ENSP00000512281.1:n.604-216A>G
ENST00000695957.1:c.*98-68A>G (ADA) ENSP00000512286.1:n.*98-68A>G
ENST00000695991.1:c.217-216A>G (ADA) ENSP00000512314.1:n.217-216A>G
ENST00000695992.1:c.607-68A>G (ADA) ENSP00000512315.1:n.607-68A>G
ENST00000695993.1:c.607-68A>G (ADA) ENSP00000512316.1:n.607-68A>G
ENST00000695994.1:c.607-68A>G (ADA) ENSP00000512317.1:n.607-68A>G
ENST00000695995.1:c.217-68A>G (ADA) ENSP00000512318.1:n.217-68A>G
ENST00000695996.1:n.678-68A>G (ADA)
ENST00000696003.1:n.699-68A>G (ADA)
ENST00000696004.1:n.699-68A>G (ADA)
ENST00000696005.1:c.129-216A>G (ADA)
ENST00000696006.1:c.607-216A>G (ADA) ENSP00000512325.1:n.607-216A>G
ENST00000696007.1:c.458-68A>G (ADA) ENSP00000512326.1:n.458-68A>G
ENST00000696008.1:n.2817A>G (ADA)
ENST00000696017.1:c.604-68A>G (ADA) ENSP00000512333.1:n.604-68A>G
ENST00000696034.1:c.607-68A>G (ADA) ENSP00000512343.1:n.607-68A>G
ENST00000696035.1:n.717-68A>G (ADA)
ENST00000696036.1:n.1297-68A>G (ADA)
ENST00000696037.1:n.2284-68A>G (ADA)
ENST00000696038.1:c.*353-68A>G (ADA) ENSP00000512344.1:n.*353-68A>G
ENST00000696039.1:n.895-68A>G (ADA)
ENST00000696058.1:c.607-71A>G (ADA) ENSP00000512361.1:n.607-71A>G
ENST00000696059.1:c.*552-68A>G (ADA) ENSP00000512362.1:n.*552-68A>G
ENST00000696060.1:c.608A>G (ADA) ENSP00000512363.1:p.His203Arg
ENST00000696061.1:c.604-68A>G (ADA) ENSP00000512364.1:n.604-68A>G
ENST00000696062.1:c.670-68A>G (ADA) ENSP00000512365.1:n.670-68A>G
ENST00000696063.1:c.682-68A>G (ADA) ENSP00000512366.1:n.682-68A>G
ENST00000696064.1:c.454-68A>G (ADA) ENSP00000512367.1:n.454-68A>G
ENST00000696065.1:c.66-216A>G (ADA) ENSP00000512368.1:n.66-216A>G
ENST00000696073.1:n.774A>G (ADA)
ENST00000696074.1:n.223-68A>G (ADA)
ENST00000696075.1:c.*577-68A>G (ADA) ENSP00000512374.1:n.*577-68A>G
ENST00000696076.1:c.608A>G (ADA) ENSP00000512375.1:p.His203Arg
ENST00000696077.1:c.604-71A>G (ADA) ENSP00000512376.1:n.604-71A>G
ENST00000696078.1:c.607-71A>G (ADA) ENSP00000512377.1:n.607-71A>G
ENST00000696079.1:c.607-71A>G (ADA) ENSP00000512378.1:n.607-71A>G
ENST00000696080.1:c.607-68A>G (ADA) ENSP00000512379.1:n.607-68A>G
ENST00000696081.1:n.726-68A>G (ADA)
ENST00000696082.1:c.685-71A>G (ADA) ENSP00000512380.1:n.685-71A>G
ENST00000696083.1:n.1488-68A>G (ADA)
ENST00000696084.1:n.708-68A>G (ADA)
ENST00000696104.1:c.363-216A>G (ADA) ENSP00000512399.1:n.363-216A>G
ENST00000696105.1:c.*148-68A>G (ADA) ENSP00000512400.1:n.*148-68A>G
ENST00000372874.9:c.607-68A>G (ADA) MANE Select ENSP00000361965.4:n.607-68A>G
ENST00000372874.8:c.607-68A>G (ADA) ENSP00000361965.4:n.607-68A>G
ENST00000372887.5:c.152-787T>C (PKIG) ENSP00000361978.1:n.152-787T>C
ENST00000464097.5:n.281-68A>G (ADA)
ENST00000492931.5:n.691-68A>G (ADA)
ENST00000536532.5:c.607-68A>G (ADA) ENSP00000440946.1:n.607-68A>G
ENST00000537820.1:c.607-216A>G (ADA) ENSP00000441818.1:n.607-216A>G
ENST00000539235.5:c.219-68A>G (ADA) ENSP00000446464.1:n.219-68A>G
NM_000022.2:c.607-68A>G , LRG_16t1:c.607-68A>G (ADA) NP_000013.2:n.607-68A>G
XM_005260236.2:c.607-216A>G (ADA) XP_005260293.1:n.607-216A>G
XM_011528478.1:c.202-68A>G (ADA) XP_011526780.1:n.202-68A>G
XM_011528479.1:c.202-68A>G (ADA) XP_011526781.1:n.202-68A>G
XR_244129.1:n.661-68A>G (ADA)
NM_000022.3:c.607-68A>G (ADA) NP_000013.2:n.607-68A>G
NM_001322050.1:c.202-68A>G (ADA) NP_001308979.1:n.202-68A>G
NM_001322051.1:c.607-216A>G (ADA) NP_001308980.1:n.607-216A>G
NR_136160.1:n.758-68A>G (ADA)
NM_000022.4:c.607-68A>G (ADA) MANE Select NP_000013.2:n.607-68A>G
NM_001322050.2:c.202-68A>G (ADA) NP_001308979.1:n.202-68A>G
NM_001322051.2:c.607-216A>G (ADA) NP_001308980.1:n.607-216A>G
NR_136160.2:n.699-68A>G (ADA)