Canonical Allele Identifier: CA409120296

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251540C>G (hg19) ; chr20:g.44622899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622899C>G , CM000682.2:g.44622899C>G	GRCh38
NC_000020.10:g.43251540C>G , CM000682.1:g.43251540C>G	GRCh37
NC_000020.9:g.42684954C>G	NCBI36
NG_007385.1:g.33837G>C , LRG_16:g.33837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.877G>C (ADA)
ENST00000536076.2:c.557G>C (ADA)	ENSP00000512234.1:p.Gly186Ala
ENST00000536532.6:c.710G>C (ADA)	ENSP00000440946.1:p.Gly237Ala
ENST00000537820.2:c.638G>C (ADA)	ENSP00000441818.1:p.Gly213Ala
ENST00000539235.6:c.*94G>C (ADA)	ENSP00000446464.1:n.*94G>C
ENST00000695889.1:c.250G>C (ADA)	ENSP00000512240.1:p.Asp84His
ENST00000695890.1:n.2589G>C (ADA)
ENST00000695891.1:c.250G>C (ADA)	ENSP00000512241.1:p.Asp84His
ENST00000695927.1:c.788G>C (ADA)	ENSP00000512270.1:p.Gly263Ala
ENST00000695949.1:c.635G>C (ADA)	ENSP00000512281.1:p.Gly212Ala
ENST00000695957.1:c.*201G>C (ADA)	ENSP00000512286.1:n.*201G>C
ENST00000695991.1:c.248G>C (ADA)	ENSP00000512314.1:p.Gly83Ala
ENST00000695992.1:c.710G>C (ADA)	ENSP00000512315.1:p.Gly237Ala
ENST00000695993.1:c.710G>C (ADA)	ENSP00000512316.1:p.Gly237Ala
ENST00000695994.1:c.683G>C (ADA)	ENSP00000512317.1:p.Gly228Ala
ENST00000695995.1:c.320G>C (ADA)	ENSP00000512318.1:p.Gly107Ala
ENST00000695996.1:n.857G>C (ADA)
ENST00000696003.1:n.878G>C (ADA)
ENST00000696004.1:n.878G>C (ADA)
ENST00000696005.1:c.160G>C (ADA)
ENST00000696006.1:c.638G>C (ADA)	ENSP00000512325.1:p.Gly213Ala
ENST00000696007.1:c.637G>C (ADA)	ENSP00000512326.1:n.637G>C
ENST00000696008.1:n.3064G>C (ADA)
ENST00000696017.1:c.707G>C (ADA)	ENSP00000512333.1:p.Gly236Ala
ENST00000696034.1:c.710G>C (ADA)	ENSP00000512343.1:p.Gly237Ala
ENST00000696035.1:n.896G>C (ADA)
ENST00000696036.1:n.1476G>C (ADA)
ENST00000696037.1:n.2387G>C (ADA)
ENST00000696038.1:c.*532G>C (ADA)	ENSP00000512344.1:n.*532G>C
ENST00000696039.1:n.1074G>C (ADA)
ENST00000696058.1:c.707G>C (ADA)	ENSP00000512361.1:p.Gly236Ala
ENST00000696059.1:c.*655G>C (ADA)	ENSP00000512362.1:n.*655G>C
ENST00000696060.1:c.779G>C (ADA)	ENSP00000512363.1:p.Gly260Ala
ENST00000696061.1:c.707G>C (ADA)	ENSP00000512364.1:p.Gly236Ala
ENST00000696062.1:c.773G>C (ADA)	ENSP00000512365.1:p.Gly258Ala
ENST00000696063.1:c.785G>C (ADA)	ENSP00000512366.1:p.Gly262Ala
ENST00000696064.1:c.557G>C (ADA)	ENSP00000512367.1:p.Gly186Ala
ENST00000696065.1:c.97G>C (ADA)	ENSP00000512368.1:p.Asp33His
ENST00000696073.1:n.1021G>C (ADA)
ENST00000696074.1:n.326G>C (ADA)
ENST00000696075.1:c.*680G>C (ADA)	ENSP00000512374.1:n.*680G>C
ENST00000696076.1:c.779G>C (ADA)	ENSP00000512375.1:p.Gly260Ala
ENST00000696077.1:c.704G>C (ADA)	ENSP00000512376.1:p.Gly235Ala
ENST00000696078.1:c.707G>C (ADA)	ENSP00000512377.1:p.Gly236Ala
ENST00000696079.1:c.707G>C (ADA)	ENSP00000512378.1:p.Gly236Ala
ENST00000696080.1:c.710G>C (ADA)	ENSP00000512379.1:p.Gly237Ala
ENST00000696081.1:n.829G>C (ADA)
ENST00000696082.1:c.785G>C (ADA)	ENSP00000512380.1:p.Gly262Ala
ENST00000696083.1:n.1667G>C (ADA)
ENST00000696084.1:n.887G>C (ADA)
ENST00000696104.1:c.394G>C (ADA)	ENSP00000512399.1:p.Asp132His
ENST00000372874.9:c.710G>C (ADA) MANE Select	ENSP00000361965.4:p.Gly237Ala
ENST00000372874.8:c.710G>C (ADA)	ENSP00000361965.4:p.Gly237Ala
ENST00000372887.5:c.152-1034C>G (PKIG)	ENSP00000361978.1:n.152-1034C>G
ENST00000464097.5:n.460G>C (ADA)
ENST00000492931.5:n.870G>C (ADA)
ENST00000536532.5:c.710G>C (ADA)	ENSP00000440946.1:p.Gly237Ala
ENST00000537820.1:c.638G>C (ADA)	ENSP00000441818.1:p.Gly213Ala
ENST00000539235.5:c.*94G>C (ADA)	ENSP00000446464.1:n.*94G>C
NM_000022.2:c.710G>C , LRG_16t1:c.710G>C (ADA)	NP_000013.2:p.Gly237Ala
XM_005260236.2:c.638G>C (ADA)	XP_005260293.1:p.Gly213Ala
XM_011528478.1:c.305G>C (ADA)	XP_011526780.1:p.Gly102Ala
XM_011528479.1:c.305G>C (ADA)	XP_011526781.1:p.Gly102Ala
XR_244129.1:n.764G>C (ADA)
NM_000022.3:c.710G>C (ADA)	NP_000013.2:p.Gly237Ala
NM_001322050.1:c.305G>C (ADA)	NP_001308979.1:p.Gly102Ala
NM_001322051.1:c.638G>C (ADA)	NP_001308980.1:p.Gly213Ala
NR_136160.1:n.861G>C (ADA)
NM_000022.4:c.710G>C (ADA) MANE Select	NP_000013.2:p.Gly237Ala
NM_001322050.2:c.305G>C (ADA)	NP_001308979.1:p.Gly102Ala
NM_001322051.2:c.638G>C (ADA)	NP_001308980.1:p.Gly213Ala
NR_136160.2:n.802G>C (ADA)