Canonical Allele Identifier: CA409120818

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624243G>A , CM000682.2:g.44624243G>A GRCh38
NC_000020.10:g.43252884G>A , CM000682.1:g.43252884G>A GRCh37
NC_000020.9:g.42686298G>A NCBI36
NG_007385.1:g.32493C>T , LRG_16:g.32493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.656C>T (ADA)
ENST00000536076.2:c.412C>T (ADA) ENSP00000512234.1:p.Pro138Ser
ENST00000536532.6:c.565C>T (ADA) ENSP00000440946.1:p.Pro189Ser
ENST00000537820.2:c.565C>T (ADA) ENSP00000441818.1:p.Pro189Ser
ENST00000539235.6:c.219-1165C>T (ADA) ENSP00000446464.1:n.219-1165C>T
ENST00000695889.1:c.219-1313C>T (ADA) ENSP00000512240.1:n.219-1313C>T
ENST00000695890.1:n.2368C>T (ADA)
ENST00000695891.1:c.219-1313C>T (ADA) ENSP00000512241.1:n.219-1313C>T
ENST00000695927.1:c.643C>T (ADA) ENSP00000512270.1:p.Pro215Ser
ENST00000695949.1:c.562C>T (ADA) ENSP00000512281.1:p.Pro188Ser
ENST00000695957.1:c.*56C>T (ADA) ENSP00000512286.1:n.*56C>T
ENST00000695991.1:c.217-1313C>T (ADA) ENSP00000512314.1:n.217-1313C>T
ENST00000695992.1:c.565C>T (ADA) ENSP00000512315.1:p.Pro189Ser
ENST00000695993.1:c.565C>T (ADA) ENSP00000512316.1:p.Pro189Ser
ENST00000695994.1:c.565C>T (ADA) ENSP00000512317.1:p.Pro189Ser
ENST00000695995.1:c.217-1165C>T (ADA) ENSP00000512318.1:n.217-1165C>T
ENST00000695996.1:n.636C>T (ADA)
ENST00000695997.1:n.520C>T (ADA)
ENST00000696003.1:n.657C>T (ADA)
ENST00000696004.1:n.657C>T (ADA)
ENST00000696005.1:c.87C>T (ADA)
ENST00000696006.1:c.565C>T (ADA) ENSP00000512325.1:p.Pro189Ser
ENST00000696007.1:c.416C>T (ADA) ENSP00000512326.1:n.416C>T
ENST00000696008.1:n.1720C>T (ADA)
ENST00000696009.1:n.1915C>T (ADA)
ENST00000696017.1:c.562C>T (ADA) ENSP00000512333.1:p.Pro188Ser
ENST00000696034.1:c.565C>T (ADA) ENSP00000512343.1:p.Pro189Ser
ENST00000696035.1:n.675C>T (ADA)
ENST00000696036.1:n.1255C>T (ADA)
ENST00000696037.1:n.2242C>T (ADA)
ENST00000696038.1:c.*311C>T (ADA) ENSP00000512344.1:n.*311C>T
ENST00000696039.1:n.853C>T (ADA)
ENST00000696058.1:c.565C>T (ADA) ENSP00000512361.1:p.Pro189Ser
ENST00000696059.1:c.*510C>T (ADA) ENSP00000512362.1:n.*510C>T
ENST00000696060.1:c.565C>T (ADA) ENSP00000512363.1:p.Pro189Ser
ENST00000696061.1:c.562C>T (ADA) ENSP00000512364.1:p.Pro188Ser
ENST00000696062.1:c.628C>T (ADA) ENSP00000512365.1:p.Pro210Ser
ENST00000696063.1:c.640C>T (ADA) ENSP00000512366.1:p.Pro214Ser
ENST00000696064.1:c.412C>T (ADA) ENSP00000512367.1:p.Pro138Ser
ENST00000696065.1:c.66-1313C>T (ADA) ENSP00000512368.1:n.66-1313C>T
ENST00000696074.1:n.181C>T (ADA)
ENST00000696075.1:c.*535C>T (ADA) ENSP00000512374.1:n.*535C>T
ENST00000696076.1:c.565C>T (ADA) ENSP00000512375.1:p.Pro189Ser
ENST00000696077.1:c.562C>T (ADA) ENSP00000512376.1:p.Pro188Ser
ENST00000696078.1:c.565C>T (ADA) ENSP00000512377.1:p.Pro189Ser
ENST00000696079.1:c.565C>T (ADA) ENSP00000512378.1:p.Pro189Ser
ENST00000696080.1:c.565C>T (ADA) ENSP00000512379.1:p.Pro189Ser
ENST00000696081.1:n.684C>T (ADA)
ENST00000696082.1:c.643C>T (ADA) ENSP00000512380.1:p.Pro215Ser
ENST00000696083.1:n.1446C>T (ADA)
ENST00000696084.1:n.666C>T (ADA)
ENST00000696104.1:c.363-1313C>T (ADA) ENSP00000512399.1:n.363-1313C>T
ENST00000696105.1:c.*106C>T (ADA) ENSP00000512400.1:n.*106C>T
ENST00000372874.9:c.565C>T (ADA) MANE Select ENSP00000361965.4:p.Pro189Ser
ENST00000372874.8:c.565C>T (ADA) ENSP00000361965.4:p.Pro189Ser
ENST00000372887.5:c.*267G>A (PKIG) ENSP00000361978.1:n.*267G>A
ENST00000464097.5:n.239C>T (ADA)
ENST00000492931.5:n.649C>T (ADA)
ENST00000536532.5:c.565C>T (ADA) ENSP00000440946.1:p.Pro189Ser
ENST00000537820.1:c.565C>T (ADA) ENSP00000441818.1:p.Pro189Ser
ENST00000539235.5:c.219-1165C>T (ADA) ENSP00000446464.1:n.219-1165C>T
NM_000022.2:c.565C>T , LRG_16t1:c.565C>T (ADA) NP_000013.2:p.Pro189Ser
XM_005260236.2:c.565C>T (ADA) XP_005260293.1:p.Pro189Ser
XM_011528478.1:c.160C>T (ADA) XP_011526780.1:p.Pro54Ser
XM_011528479.1:c.160C>T (ADA) XP_011526781.1:p.Pro54Ser
XR_244129.1:n.619C>T (ADA)
NM_000022.3:c.565C>T (ADA) NP_000013.2:p.Pro189Ser
NM_001322050.1:c.160C>T (ADA) NP_001308979.1:p.Pro54Ser
NM_001322051.1:c.565C>T (ADA) NP_001308980.1:p.Pro189Ser
NR_136160.1:n.716C>T (ADA)
NM_000022.4:c.565C>T (ADA) MANE Select NP_000013.2:p.Pro189Ser
NM_001322050.2:c.160C>T (ADA) NP_001308979.1:p.Pro54Ser
NM_001322051.2:c.565C>T (ADA) NP_001308980.1:p.Pro189Ser
NR_136160.2:n.657C>T (ADA)