Canonical Allele Identifier: CA409120821

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43252886A>C (hg19) ; chr20:g.44624245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624245A>C , CM000682.2:g.44624245A>C	GRCh38
NC_000020.10:g.43252886A>C , CM000682.1:g.43252886A>C	GRCh37
NC_000020.9:g.42686300A>C	NCBI36
NG_007385.1:g.32491T>G , LRG_16:g.32491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.654T>G (ADA)
ENST00000536076.2:c.410T>G (ADA)	ENSP00000512234.1:p.Ile137Ser
ENST00000536532.6:c.563T>G (ADA)	ENSP00000440946.1:p.Ile188Ser
ENST00000537820.2:c.563T>G (ADA)	ENSP00000441818.1:p.Ile188Ser
ENST00000539235.6:c.219-1167T>G (ADA)	ENSP00000446464.1:n.219-1167T>G
ENST00000695889.1:c.219-1315T>G (ADA)	ENSP00000512240.1:n.219-1315T>G
ENST00000695890.1:n.2366T>G (ADA)
ENST00000695891.1:c.219-1315T>G (ADA)	ENSP00000512241.1:n.219-1315T>G
ENST00000695927.1:c.641T>G (ADA)	ENSP00000512270.1:p.Ile214Ser
ENST00000695949.1:c.560T>G (ADA)	ENSP00000512281.1:p.Ile187Ser
ENST00000695957.1:c.*54T>G (ADA)	ENSP00000512286.1:n.*54T>G
ENST00000695991.1:c.217-1315T>G (ADA)	ENSP00000512314.1:n.217-1315T>G
ENST00000695992.1:c.563T>G (ADA)	ENSP00000512315.1:p.Ile188Ser
ENST00000695993.1:c.563T>G (ADA)	ENSP00000512316.1:p.Ile188Ser
ENST00000695994.1:c.563T>G (ADA)	ENSP00000512317.1:p.Ile188Ser
ENST00000695995.1:c.217-1167T>G (ADA)	ENSP00000512318.1:n.217-1167T>G
ENST00000695996.1:n.634T>G (ADA)
ENST00000695997.1:n.518T>G (ADA)
ENST00000696003.1:n.655T>G (ADA)
ENST00000696004.1:n.655T>G (ADA)
ENST00000696005.1:c.85T>G (ADA)
ENST00000696006.1:c.563T>G (ADA)	ENSP00000512325.1:p.Ile188Ser
ENST00000696007.1:c.414T>G (ADA)	ENSP00000512326.1:n.414T>G
ENST00000696008.1:n.1718T>G (ADA)
ENST00000696009.1:n.1913T>G (ADA)
ENST00000696017.1:c.560T>G (ADA)	ENSP00000512333.1:p.Ile187Ser
ENST00000696034.1:c.563T>G (ADA)	ENSP00000512343.1:p.Ile188Ser
ENST00000696035.1:n.673T>G (ADA)
ENST00000696036.1:n.1253T>G (ADA)
ENST00000696037.1:n.2240T>G (ADA)
ENST00000696038.1:c.*309T>G (ADA)	ENSP00000512344.1:n.*309T>G
ENST00000696039.1:n.851T>G (ADA)
ENST00000696058.1:c.563T>G (ADA)	ENSP00000512361.1:p.Ile188Ser
ENST00000696059.1:c.*508T>G (ADA)	ENSP00000512362.1:n.*508T>G
ENST00000696060.1:c.563T>G (ADA)	ENSP00000512363.1:p.Ile188Ser
ENST00000696061.1:c.560T>G (ADA)	ENSP00000512364.1:p.Ile187Ser
ENST00000696062.1:c.626T>G (ADA)	ENSP00000512365.1:p.Ile209Ser
ENST00000696063.1:c.638T>G (ADA)	ENSP00000512366.1:p.Ile213Ser
ENST00000696064.1:c.410T>G (ADA)	ENSP00000512367.1:p.Ile137Ser
ENST00000696065.1:c.66-1315T>G (ADA)	ENSP00000512368.1:n.66-1315T>G
ENST00000696074.1:n.179T>G (ADA)
ENST00000696075.1:c.*533T>G (ADA)	ENSP00000512374.1:n.*533T>G
ENST00000696076.1:c.563T>G (ADA)	ENSP00000512375.1:p.Ile188Ser
ENST00000696077.1:c.560T>G (ADA)	ENSP00000512376.1:p.Ile187Ser
ENST00000696078.1:c.563T>G (ADA)	ENSP00000512377.1:p.Ile188Ser
ENST00000696079.1:c.563T>G (ADA)	ENSP00000512378.1:p.Ile188Ser
ENST00000696080.1:c.563T>G (ADA)	ENSP00000512379.1:p.Ile188Ser
ENST00000696081.1:n.682T>G (ADA)
ENST00000696082.1:c.641T>G (ADA)	ENSP00000512380.1:p.Ile214Ser
ENST00000696083.1:n.1444T>G (ADA)
ENST00000696084.1:n.664T>G (ADA)
ENST00000696104.1:c.363-1315T>G (ADA)	ENSP00000512399.1:n.363-1315T>G
ENST00000696105.1:c.*104T>G (ADA)	ENSP00000512400.1:n.*104T>G
ENST00000372874.9:c.563T>G (ADA) MANE Select	ENSP00000361965.4:p.Ile188Ser
ENST00000372874.8:c.563T>G (ADA)	ENSP00000361965.4:p.Ile188Ser
ENST00000372887.5:c.*269A>C (PKIG)	ENSP00000361978.1:n.*269A>C
ENST00000464097.5:n.237T>G (ADA)
ENST00000492931.5:n.647T>G (ADA)
ENST00000536532.5:c.563T>G (ADA)	ENSP00000440946.1:p.Ile188Ser
ENST00000537820.1:c.563T>G (ADA)	ENSP00000441818.1:p.Ile188Ser
ENST00000539235.5:c.219-1167T>G (ADA)	ENSP00000446464.1:n.219-1167T>G
NM_000022.2:c.563T>G , LRG_16t1:c.563T>G (ADA)	NP_000013.2:p.Ile188Ser
XM_005260236.2:c.563T>G (ADA)	XP_005260293.1:p.Ile188Ser
XM_011528478.1:c.158T>G (ADA)	XP_011526780.1:p.Ile53Ser
XM_011528479.1:c.158T>G (ADA)	XP_011526781.1:p.Ile53Ser
XR_244129.1:n.617T>G (ADA)
NM_000022.3:c.563T>G (ADA)	NP_000013.2:p.Ile188Ser
NM_001322050.1:c.158T>G (ADA)	NP_001308979.1:p.Ile53Ser
NM_001322051.1:c.563T>G (ADA)	NP_001308980.1:p.Ile188Ser
NR_136160.1:n.714T>G (ADA)
NM_000022.4:c.563T>G (ADA) MANE Select	NP_000013.2:p.Ile188Ser
NM_001322050.2:c.158T>G (ADA)	NP_001308979.1:p.Ile53Ser
NM_001322051.2:c.563T>G (ADA)	NP_001308980.1:p.Ile188Ser
NR_136160.2:n.655T>G (ADA)