Canonical Allele Identifier: CA252006
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1965
dbSNP Id: rs121908739

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626498A>G , CM000682.2:g.44626498A>G GRCh38
NC_000020.10:g.43255139A>G , CM000682.1:g.43255139A>G GRCh37
NC_000020.9:g.42688553A>G NCBI36
NG_007385.1:g.30238T>C , LRG_16:g.30238T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.411T>C
ENST00000536076.2:c.167T>C ENSP00000512234.1:p.Leu56Pro
ENST00000536532.6:c.320T>C ENSP00000440946.1:p.Leu107Pro
ENST00000537820.2:c.320T>C ENSP00000441818.1:p.Leu107Pro
ENST00000539235.6:c.218+2549T>C ENSP00000446464.1:n.218+2549T>C
ENST00000695889.1:c.218+2549T>C ENSP00000512240.1:n.218+2549T>C
ENST00000695890.1:n.2123T>C
ENST00000695891.1:c.218+2549T>C ENSP00000512241.1:n.218+2549T>C
ENST00000695927.1:c.398T>C ENSP00000512270.1:p.Leu133Pro
ENST00000695949.1:c.317T>C ENSP00000512281.1:p.Leu106Pro
ENST00000695957.1:c.320T>C ENSP00000512286.1:p.Leu107Pro
ENST00000695991.1:c.216+2551T>C ENSP00000512314.1:n.216+2551T>C
ENST00000695992.1:c.320T>C ENSP00000512315.1:p.Leu107Pro
ENST00000695993.1:c.320T>C ENSP00000512316.1:p.Leu107Pro
ENST00000695994.1:c.320T>C ENSP00000512317.1:p.Leu107Pro
ENST00000695995.1:c.216+2551T>C ENSP00000512318.1:n.216+2551T>C
ENST00000695996.1:n.391T>C
ENST00000695997.1:n.391T>C
ENST00000696003.1:n.412T>C
ENST00000696004.1:n.412T>C
ENST00000696006.1:c.320T>C ENSP00000512325.1:p.Leu107Pro
ENST00000696007.1:c.287T>C ENSP00000512326.1:p.Leu96Pro
ENST00000696009.1:n.431T>C
ENST00000696017.1:c.317T>C ENSP00000512333.1:p.Leu106Pro
ENST00000696034.1:c.320T>C ENSP00000512343.1:p.Leu107Pro
ENST00000696035.1:n.430T>C
ENST00000696036.1:n.1010T>C
ENST00000696037.1:n.1997T>C
ENST00000696038.1:c.*66T>C ENSP00000512344.1:n.*66T>C
ENST00000696039.1:n.608T>C
ENST00000696058.1:c.320T>C ENSP00000512361.1:p.Leu107Pro
ENST00000696059.1:c.*265T>C ENSP00000512362.1:n.*265T>C
ENST00000696060.1:c.320T>C ENSP00000512363.1:p.Leu107Pro
ENST00000696061.1:c.317T>C ENSP00000512364.1:p.Leu106Pro
ENST00000696062.1:c.383T>C ENSP00000512365.1:p.Leu128Pro
ENST00000696063.1:c.395T>C ENSP00000512366.1:p.Leu132Pro
ENST00000696064.1:c.167T>C ENSP00000512367.1:p.Leu56Pro
ENST00000696065.1:c.65+2549T>C ENSP00000512368.1:n.65+2549T>C
ENST00000696075.1:c.*290T>C ENSP00000512374.1:n.*290T>C
ENST00000696076.1:c.320T>C ENSP00000512375.1:p.Leu107Pro
ENST00000696077.1:c.317T>C ENSP00000512376.1:p.Leu106Pro
ENST00000696078.1:c.320T>C ENSP00000512377.1:p.Leu107Pro
ENST00000696079.1:c.320T>C ENSP00000512378.1:p.Leu107Pro
ENST00000696080.1:c.320T>C ENSP00000512379.1:p.Leu107Pro
ENST00000696082.1:c.398T>C ENSP00000512380.1:p.Leu133Pro
ENST00000696084.1:n.421T>C
ENST00000696104.1:c.320T>C ENSP00000512399.1:p.Leu107Pro
ENST00000696105.1:c.320T>C ENSP00000512400.1:p.Leu107Pro
ENST00000372874.9:c.320T>C MANE Select ENSP00000361965.4:p.Leu107Pro
ENST00000372874.8:c.320T>C ENSP00000361965.4:p.Leu107Pro
ENST00000492931.5:n.404T>C
ENST00000536532.5:c.320T>C ENSP00000440946.1:p.Leu107Pro
ENST00000537820.1:c.320T>C ENSP00000441818.1:p.Leu107Pro
ENST00000539235.5:c.218+2549T>C ENSP00000446464.1:n.218+2549T>C
ENST00000545776.5:n.374T>C
NM_000022.2:c.320T>C , LRG_16t1:c.320T>C NP_000013.2:p.Leu107Pro
XM_005260236.2:c.320T>C XP_005260293.1:p.Leu107Pro
XM_011528478.1:c.31T>C XP_011526780.1:p.Trp11Arg
XM_011528479.1:c.31T>C XP_011526781.1:p.Trp11Arg
XR_244129.1:n.374T>C
NM_000022.3:c.320T>C NP_000013.2:p.Leu107Pro
NM_001322050.1:c.31T>C NP_001308979.1:p.Trp11Arg
NM_001322051.1:c.320T>C NP_001308980.1:p.Leu107Pro
NR_136160.1:n.471T>C
NM_000022.4:c.320T>C MANE Select NP_000013.2:p.Leu107Pro
NM_001322050.2:c.31T>C NP_001308979.1:p.Trp11Arg
NM_001322051.2:c.320T>C NP_001308980.1:p.Leu107Pro
NR_136160.2:n.412T>C