Canonical Allele Identifier: CA9871633
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs779346543

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624275A>G , CM000682.2:g.44624275A>G GRCh38
NC_000020.10:g.43252916A>G , CM000682.1:g.43252916A>G GRCh37
NC_000020.9:g.42686330A>G NCBI36
NG_007385.1:g.32461T>C , LRG_16:g.32461T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.624T>C
ENST00000536076.2:c.380T>C ENSP00000512234.1:p.Val127Ala
ENST00000536532.6:c.533T>C ENSP00000440946.1:p.Val178Ala
ENST00000537820.2:c.533T>C ENSP00000441818.1:p.Val178Ala
ENST00000539235.6:c.219-1197T>C ENSP00000446464.1:n.219-1197T>C
ENST00000695889.1:c.219-1345T>C ENSP00000512240.1:n.219-1345T>C
ENST00000695890.1:n.2336T>C
ENST00000695891.1:c.219-1345T>C ENSP00000512241.1:n.219-1345T>C
ENST00000695927.1:c.611T>C ENSP00000512270.1:p.Val204Ala
ENST00000695949.1:c.530T>C ENSP00000512281.1:p.Val177Ala
ENST00000695957.1:c.*24T>C ENSP00000512286.1:n.*24T>C
ENST00000695991.1:c.217-1345T>C ENSP00000512314.1:n.217-1345T>C
ENST00000695992.1:c.533T>C ENSP00000512315.1:p.Val178Ala
ENST00000695993.1:c.533T>C ENSP00000512316.1:p.Val178Ala
ENST00000695994.1:c.533T>C ENSP00000512317.1:p.Val178Ala
ENST00000695995.1:c.217-1197T>C ENSP00000512318.1:n.217-1197T>C
ENST00000695996.1:n.604T>C
ENST00000695997.1:n.488T>C
ENST00000696003.1:n.625T>C
ENST00000696004.1:n.625T>C
ENST00000696005.1:c.55T>C
ENST00000696006.1:c.533T>C ENSP00000512325.1:p.Val178Ala
ENST00000696007.1:c.384T>C ENSP00000512326.1:n.384T>C
ENST00000696008.1:n.1688T>C
ENST00000696009.1:n.1883T>C
ENST00000696017.1:c.530T>C ENSP00000512333.1:p.Val177Ala
ENST00000696034.1:c.533T>C ENSP00000512343.1:p.Val178Ala
ENST00000696035.1:n.643T>C
ENST00000696036.1:n.1223T>C
ENST00000696037.1:n.2210T>C
ENST00000696038.1:c.*279T>C ENSP00000512344.1:n.*279T>C
ENST00000696039.1:n.821T>C
ENST00000696058.1:c.533T>C ENSP00000512361.1:p.Val178Ala
ENST00000696059.1:c.*478T>C ENSP00000512362.1:n.*478T>C
ENST00000696060.1:c.533T>C ENSP00000512363.1:p.Val178Ala
ENST00000696061.1:c.530T>C ENSP00000512364.1:p.Val177Ala
ENST00000696062.1:c.596T>C ENSP00000512365.1:p.Val199Ala
ENST00000696063.1:c.608T>C ENSP00000512366.1:p.Val203Ala
ENST00000696064.1:c.380T>C ENSP00000512367.1:p.Val127Ala
ENST00000696065.1:c.66-1345T>C ENSP00000512368.1:n.66-1345T>C
ENST00000696074.1:n.149T>C
ENST00000696075.1:c.*503T>C ENSP00000512374.1:n.*503T>C
ENST00000696076.1:c.533T>C ENSP00000512375.1:p.Val178Ala
ENST00000696077.1:c.530T>C ENSP00000512376.1:p.Val177Ala
ENST00000696078.1:c.533T>C ENSP00000512377.1:p.Val178Ala
ENST00000696079.1:c.533T>C ENSP00000512378.1:p.Val178Ala
ENST00000696080.1:c.533T>C ENSP00000512379.1:p.Val178Ala
ENST00000696081.1:n.652T>C
ENST00000696082.1:c.611T>C ENSP00000512380.1:p.Val204Ala
ENST00000696083.1:n.1414T>C
ENST00000696084.1:n.634T>C
ENST00000696104.1:c.363-1345T>C ENSP00000512399.1:n.363-1345T>C
ENST00000696105.1:c.*74T>C ENSP00000512400.1:n.*74T>C
ENST00000372874.9:c.533T>C MANE Select ENSP00000361965.4:p.Val178Ala
ENST00000372874.8:c.533T>C ENSP00000361965.4:p.Val178Ala
ENST00000464097.5:n.207T>C
ENST00000492931.5:n.617T>C
ENST00000536532.5:c.533T>C ENSP00000440946.1:p.Val178Ala
ENST00000537820.1:c.533T>C ENSP00000441818.1:p.Val178Ala
ENST00000539235.5:c.219-1197T>C ENSP00000446464.1:n.219-1197T>C
NM_000022.2:c.533T>C , LRG_16t1:c.533T>C NP_000013.2:p.Val178Ala
XM_005260236.2:c.533T>C XP_005260293.1:p.Val178Ala
XM_011528478.1:c.128T>C XP_011526780.1:p.Val43Ala
XM_011528479.1:c.128T>C XP_011526781.1:p.Val43Ala
XR_244129.1:n.587T>C
NM_000022.3:c.533T>C NP_000013.2:p.Val178Ala
NM_001322050.1:c.128T>C NP_001308979.1:p.Val43Ala
NM_001322051.1:c.533T>C NP_001308980.1:p.Val178Ala
NR_136160.1:n.684T>C
NM_000022.4:c.533T>C MANE Select NP_000013.2:p.Val178Ala
NM_001322050.2:c.128T>C NP_001308979.1:p.Val43Ala
NM_001322051.2:c.533T>C NP_001308980.1:p.Val178Ala
NR_136160.2:n.625T>C