Canonical Allele Identifier: CA409120986
Gene: ADA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624321G>C , CM000682.2:g.44624321G>C GRCh38
NC_000020.10:g.43252962G>C , CM000682.1:g.43252962G>C GRCh37
NC_000020.9:g.42686376G>C NCBI36
NG_007385.1:g.32415C>G , LRG_16:g.32415C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.578C>G
ENST00000536076.2:c.334C>G ENSP00000512234.1:p.Pro112Ala
ENST00000536532.6:c.487C>G ENSP00000440946.1:p.Pro163Ala
ENST00000537820.2:c.487C>G ENSP00000441818.1:p.Pro163Ala
ENST00000539235.6:c.219-1243C>G ENSP00000446464.1:n.219-1243C>G
ENST00000695889.1:c.219-1391C>G ENSP00000512240.1:n.219-1391C>G
ENST00000695890.1:n.2290C>G
ENST00000695891.1:c.219-1391C>G ENSP00000512241.1:n.219-1391C>G
ENST00000695927.1:c.565C>G ENSP00000512270.1:p.Pro189Ala
ENST00000695949.1:c.484C>G ENSP00000512281.1:p.Pro162Ala
ENST00000695957.1:c.371C>G ENSP00000512286.1:p.Pro124Arg
ENST00000695991.1:c.217-1391C>G ENSP00000512314.1:n.217-1391C>G
ENST00000695992.1:c.487C>G ENSP00000512315.1:p.Pro163Ala
ENST00000695993.1:c.487C>G ENSP00000512316.1:p.Pro163Ala
ENST00000695994.1:c.487C>G ENSP00000512317.1:p.Pro163Ala
ENST00000695995.1:c.217-1243C>G ENSP00000512318.1:n.217-1243C>G
ENST00000695996.1:n.558C>G
ENST00000695997.1:n.442C>G
ENST00000696003.1:n.579C>G
ENST00000696004.1:n.579C>G
ENST00000696005.1:c.9C>G
ENST00000696006.1:c.487C>G ENSP00000512325.1:p.Pro163Ala
ENST00000696007.1:c.338C>G ENSP00000512326.1:p.Pro113Arg
ENST00000696008.1:n.1642C>G
ENST00000696009.1:n.1837C>G
ENST00000696017.1:c.484C>G ENSP00000512333.1:p.Pro162Ala
ENST00000696034.1:c.487C>G ENSP00000512343.1:p.Pro163Ala
ENST00000696035.1:n.597C>G
ENST00000696036.1:n.1177C>G
ENST00000696037.1:n.2164C>G
ENST00000696038.1:c.*233C>G ENSP00000512344.1:n.*233C>G
ENST00000696039.1:n.775C>G
ENST00000696058.1:c.487C>G ENSP00000512361.1:p.Pro163Ala
ENST00000696059.1:c.*432C>G ENSP00000512362.1:n.*432C>G
ENST00000696060.1:c.487C>G ENSP00000512363.1:p.Pro163Ala
ENST00000696061.1:c.484C>G ENSP00000512364.1:p.Pro162Ala
ENST00000696062.1:c.550C>G ENSP00000512365.1:p.Pro184Ala
ENST00000696063.1:c.562C>G ENSP00000512366.1:p.Pro188Ala
ENST00000696064.1:c.334C>G ENSP00000512367.1:p.Pro112Ala
ENST00000696065.1:c.66-1391C>G ENSP00000512368.1:n.66-1391C>G
ENST00000696074.1:n.103C>G
ENST00000696075.1:c.*457C>G ENSP00000512374.1:n.*457C>G
ENST00000696076.1:c.487C>G ENSP00000512375.1:p.Pro163Ala
ENST00000696077.1:c.484C>G ENSP00000512376.1:p.Pro162Ala
ENST00000696078.1:c.487C>G ENSP00000512377.1:p.Pro163Ala
ENST00000696079.1:c.487C>G ENSP00000512378.1:p.Pro163Ala
ENST00000696080.1:c.487C>G ENSP00000512379.1:p.Pro163Ala
ENST00000696081.1:n.606C>G
ENST00000696082.1:c.565C>G ENSP00000512380.1:p.Pro189Ala
ENST00000696083.1:n.1368C>G
ENST00000696084.1:n.588C>G
ENST00000696104.1:c.363-1391C>G ENSP00000512399.1:n.363-1391C>G
ENST00000696105.1:c.*28C>G ENSP00000512400.1:n.*28C>G
ENST00000372874.9:c.487C>G MANE Select ENSP00000361965.4:p.Pro163Ala
ENST00000372874.8:c.487C>G ENSP00000361965.4:p.Pro163Ala
ENST00000464097.5:n.161C>G
ENST00000492931.5:n.571C>G
ENST00000536532.5:c.487C>G ENSP00000440946.1:p.Pro163Ala
ENST00000537820.1:c.487C>G ENSP00000441818.1:p.Pro163Ala
ENST00000539235.5:c.219-1243C>G ENSP00000446464.1:n.219-1243C>G
NM_000022.2:c.487C>G , LRG_16t1:c.487C>G NP_000013.2:p.Pro163Ala
XM_005260236.2:c.487C>G XP_005260293.1:p.Pro163Ala
XM_011528478.1:c.82C>G XP_011526780.1:p.Pro28Ala
XM_011528479.1:c.82C>G XP_011526781.1:p.Pro28Ala
XR_244129.1:n.541C>G
NM_000022.3:c.487C>G NP_000013.2:p.Pro163Ala
NM_001322050.1:c.82C>G NP_001308979.1:p.Pro28Ala
NM_001322051.1:c.487C>G NP_001308980.1:p.Pro163Ala
NR_136160.1:n.638C>G
NM_000022.4:c.487C>G MANE Select NP_000013.2:p.Pro163Ala
NM_001322050.2:c.82C>G NP_001308979.1:p.Pro28Ala
NM_001322051.2:c.487C>G NP_001308980.1:p.Pro163Ala
NR_136160.2:n.579C>G