Canonical Allele Identifier: CA2365854443

Linked Data

dbSNP Id: rs1568841605

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620040C>T , CM000682.2:g.44620040C>T GRCh38
NC_000020.10:g.43248681C>T , CM000682.1:g.43248681C>T GRCh37
NC_000020.9:g.42682095C>T NCBI36
NG_007385.1:g.36696G>A , LRG_16:g.36696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1246-193G>A (ADA)
ENST00000536076.2:c.926-193G>A (ADA) ENSP00000512234.1:n.926-193G>A
ENST00000536532.6:c.*222-193G>A (ADA) ENSP00000440946.1:n.*222-193G>A
ENST00000537820.2:c.1007-193G>A (ADA) ENSP00000441818.1:n.1007-193G>A
ENST00000539235.6:c.*463-193G>A (ADA) ENSP00000446464.1:n.*463-193G>A
ENST00000695889.1:c.554-193G>A (ADA) ENSP00000512240.1:n.554-193G>A
ENST00000695890.1:n.5448G>A (ADA)
ENST00000695891.1:c.619-193G>A (ADA) ENSP00000512241.1:n.619-193G>A
ENST00000695927.1:c.1157-193G>A (ADA) ENSP00000512270.1:n.1157-193G>A
ENST00000695949.1:c.1004-193G>A (ADA) ENSP00000512281.1:n.1004-193G>A
ENST00000695956.1:c.234-180G>A (ADA)
ENST00000695957.1:c.*570-193G>A (ADA) ENSP00000512286.1:n.*570-193G>A
ENST00000695991.1:c.617-193G>A (ADA) ENSP00000512314.1:n.617-193G>A
ENST00000695992.1:c.*480G>A (ADA) ENSP00000512315.1:n.*480G>A
ENST00000695993.1:c.1079-95G>A (ADA) ENSP00000512316.1:n.1079-95G>A
ENST00000695994.1:c.*222-193G>A (ADA) ENSP00000512317.1:n.*222-193G>A
ENST00000695995.1:c.689-193G>A (ADA) ENSP00000512318.1:n.689-193G>A
ENST00000695996.1:n.1161-193G>A (ADA)
ENST00000696003.1:n.2863-193G>A (ADA)
ENST00000696004.1:n.2121G>A (ADA)
ENST00000696005.1:c.787G>A (ADA)
ENST00000696006.1:c.*222-193G>A (ADA) ENSP00000512325.1:n.*222-193G>A
ENST00000696007.1:c.1006-193G>A (ADA) ENSP00000512326.1:n.1006-193G>A
ENST00000696008.1:n.3691G>A (ADA)
ENST00000696017.1:c.*80G>A (ADA) ENSP00000512333.1:n.*80G>A
ENST00000696034.1:c.*221+259G>A (ADA) ENSP00000512343.1:n.*221+259G>A
ENST00000696035.1:n.1523G>A (ADA)
ENST00000696036.1:n.2038G>A (ADA)
ENST00000696037.1:n.2756-193G>A (ADA)
ENST00000696038.1:c.*1094G>A (ADA) ENSP00000512344.1:n.*1094G>A
ENST00000696039.1:n.1443-193G>A (ADA)
ENST00000696058.1:c.1076-95G>A (ADA) ENSP00000512361.1:n.1076-95G>A
ENST00000696059.1:c.*1024-193G>A (ADA) ENSP00000512362.1:n.*1024-193G>A
ENST00000696060.1:c.1148-193G>A (ADA) ENSP00000512363.1:n.1148-193G>A
ENST00000696061.1:c.1076-193G>A (ADA) ENSP00000512364.1:n.1076-193G>A
ENST00000696062.1:c.1142-193G>A (ADA) ENSP00000512365.1:n.1142-193G>A
ENST00000696063.1:c.1154-193G>A (ADA) ENSP00000512366.1:n.1154-193G>A
ENST00000696064.1:c.926-193G>A (ADA) ENSP00000512367.1:n.926-193G>A
ENST00000696065.1:c.401-193G>A (ADA) ENSP00000512368.1:n.401-193G>A
ENST00000696072.1:n.692G>A (ADA)
ENST00000696073.1:n.1390-193G>A (ADA)
ENST00000696074.1:n.630-193G>A (ADA)
ENST00000696075.1:c.*1049-193G>A (ADA) ENSP00000512374.1:n.*1049-193G>A
ENST00000696076.1:c.*80G>A (ADA) ENSP00000512375.1:n.*80G>A
ENST00000696077.1:c.1073-193G>A (ADA) ENSP00000512376.1:n.1073-193G>A
ENST00000696078.1:c.1076-193G>A (ADA) ENSP00000512377.1:n.1076-193G>A
ENST00000696079.1:c.1076-198G>A (ADA) ENSP00000512378.1:n.1076-198G>A
ENST00000696080.1:c.1079-198G>A (ADA) ENSP00000512379.1:n.1079-198G>A
ENST00000696081.1:n.1456G>A (ADA)
ENST00000696082.1:c.1154-193G>A (ADA) ENSP00000512380.1:n.1154-193G>A
ENST00000696083.1:n.2036-193G>A (ADA)
ENST00000696084.1:n.1514G>A (ADA)
ENST00000696104.1:c.*148-193G>A (ADA) ENSP00000512399.1:n.*148-193G>A
ENST00000372874.9:c.1079-193G>A (ADA) MANE Select ENSP00000361965.4:n.1079-193G>A
ENST00000372874.8:c.1079-193G>A (ADA) ENSP00000361965.4:n.1079-193G>A
ENST00000372887.5:c.152-3893C>T (PKIG) ENSP00000361978.1:n.152-3893C>T
ENST00000464097.5:n.1445-193G>A (ADA)
ENST00000492931.5:n.1239-193G>A (ADA)
ENST00000536532.5:c.*222-193G>A (ADA) ENSP00000440946.1:n.*222-193G>A
ENST00000537820.1:c.1007-193G>A (ADA) ENSP00000441818.1:n.1007-193G>A
ENST00000539235.5:c.*463-193G>A (ADA) ENSP00000446464.1:n.*463-193G>A
NM_000022.2:c.1079-193G>A , LRG_16t1:c.1079-193G>A (ADA) NP_000013.2:n.1079-193G>A
XM_005260236.2:c.1007-193G>A (ADA) XP_005260293.1:n.1007-193G>A
XM_011528478.1:c.674-193G>A (ADA) XP_011526780.1:n.674-193G>A
XM_011528479.1:c.674-193G>A (ADA) XP_011526781.1:n.674-193G>A
XR_244129.1:n.1068-193G>A (ADA)
NM_000022.3:c.1079-193G>A (ADA) NP_000013.2:n.1079-193G>A
NM_001322050.1:c.674-193G>A (ADA) NP_001308979.1:n.674-193G>A
NM_001322051.1:c.1007-193G>A (ADA) NP_001308980.1:n.1007-193G>A
NR_136160.1:n.1165-193G>A (ADA)
NM_000022.4:c.1079-193G>A (ADA) MANE Select NP_000013.2:n.1079-193G>A
NM_001322050.2:c.674-193G>A (ADA) NP_001308979.1:n.674-193G>A
NM_001322051.2:c.1007-193G>A (ADA) NP_001308980.1:n.1007-193G>A
NR_136160.2:n.1106-193G>A (ADA)