Canonical Allele Identifier: CA409120401

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251661T>C (hg19) ; chr20:g.44623020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623020T>C , CM000682.2:g.44623020T>C	GRCh38
NC_000020.10:g.43251661T>C , CM000682.1:g.43251661T>C	GRCh37
NC_000020.9:g.42685075T>C	NCBI36
NG_007385.1:g.33716A>G , LRG_16:g.33716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.756A>G (ADA)
ENST00000536076.2:c.512A>G (ADA)	ENSP00000512234.1:p.Glu171Gly
ENST00000536532.6:c.665A>G (ADA)	ENSP00000440946.1:p.Glu222Gly
ENST00000537820.2:c.607-90A>G (ADA)	ENSP00000441818.1:n.607-90A>G
ENST00000539235.6:c.*49A>G (ADA)	ENSP00000446464.1:n.*49A>G
ENST00000695889.1:c.219-90A>G (ADA)	ENSP00000512240.1:n.219-90A>G
ENST00000695890.1:n.2468A>G (ADA)
ENST00000695891.1:c.219-90A>G (ADA)	ENSP00000512241.1:n.219-90A>G
ENST00000695927.1:c.743A>G (ADA)	ENSP00000512270.1:p.Glu248Gly
ENST00000695949.1:c.604-90A>G (ADA)	ENSP00000512281.1:n.604-90A>G
ENST00000695957.1:c.*156A>G (ADA)	ENSP00000512286.1:n.*156A>G
ENST00000695991.1:c.217-90A>G (ADA)	ENSP00000512314.1:n.217-90A>G
ENST00000695992.1:c.665A>G (ADA)	ENSP00000512315.1:p.Glu222Gly
ENST00000695993.1:c.665A>G (ADA)	ENSP00000512316.1:p.Glu222Gly
ENST00000695994.1:c.651+14A>G (ADA)	ENSP00000512317.1:n.651+14A>G
ENST00000695995.1:c.275A>G (ADA)	ENSP00000512318.1:p.Glu92Gly
ENST00000695996.1:n.736A>G (ADA)
ENST00000696003.1:n.757A>G (ADA)
ENST00000696004.1:n.757A>G (ADA)
ENST00000696005.1:c.129-90A>G (ADA)
ENST00000696006.1:c.607-90A>G (ADA)	ENSP00000512325.1:n.607-90A>G
ENST00000696007.1:c.516A>G (ADA)	ENSP00000512326.1:n.516A>G
ENST00000696008.1:n.2943A>G (ADA)
ENST00000696017.1:c.662A>G (ADA)	ENSP00000512333.1:p.Glu221Gly
ENST00000696034.1:c.665A>G (ADA)	ENSP00000512343.1:p.Glu222Gly
ENST00000696035.1:n.775A>G (ADA)
ENST00000696036.1:n.1355A>G (ADA)
ENST00000696037.1:n.2342A>G (ADA)
ENST00000696038.1:c.*411A>G (ADA)	ENSP00000512344.1:n.*411A>G
ENST00000696039.1:n.953A>G (ADA)
ENST00000696058.1:c.662A>G (ADA)	ENSP00000512361.1:p.Glu221Gly
ENST00000696059.1:c.*610A>G (ADA)	ENSP00000512362.1:n.*610A>G
ENST00000696060.1:c.734A>G (ADA)	ENSP00000512363.1:p.Glu245Gly
ENST00000696061.1:c.662A>G (ADA)	ENSP00000512364.1:p.Glu221Gly
ENST00000696062.1:c.728A>G (ADA)	ENSP00000512365.1:p.Glu243Gly
ENST00000696063.1:c.740A>G (ADA)	ENSP00000512366.1:p.Glu247Gly
ENST00000696064.1:c.512A>G (ADA)	ENSP00000512367.1:p.Glu171Gly
ENST00000696065.1:c.66-90A>G (ADA)	ENSP00000512368.1:n.66-90A>G
ENST00000696073.1:n.900A>G (ADA)
ENST00000696074.1:n.281A>G (ADA)
ENST00000696075.1:c.*635A>G (ADA)	ENSP00000512374.1:n.*635A>G
ENST00000696076.1:c.734A>G (ADA)	ENSP00000512375.1:p.Glu245Gly
ENST00000696077.1:c.659A>G (ADA)	ENSP00000512376.1:p.Glu220Gly
ENST00000696078.1:c.662A>G (ADA)	ENSP00000512377.1:p.Glu221Gly
ENST00000696079.1:c.662A>G (ADA)	ENSP00000512378.1:p.Glu221Gly
ENST00000696080.1:c.665A>G (ADA)	ENSP00000512379.1:p.Glu222Gly
ENST00000696081.1:n.784A>G (ADA)
ENST00000696082.1:c.740A>G (ADA)	ENSP00000512380.1:p.Glu247Gly
ENST00000696083.1:n.1546A>G (ADA)
ENST00000696084.1:n.766A>G (ADA)
ENST00000696104.1:c.363-90A>G (ADA)	ENSP00000512399.1:n.363-90A>G
ENST00000696105.1:c.*206A>G (ADA)	ENSP00000512400.1:n.*206A>G
ENST00000372874.9:c.665A>G (ADA) MANE Select	ENSP00000361965.4:p.Glu222Gly
ENST00000372874.8:c.665A>G (ADA)	ENSP00000361965.4:p.Glu222Gly
ENST00000372887.5:c.152-913T>C (PKIG)	ENSP00000361978.1:n.152-913T>C
ENST00000464097.5:n.339A>G (ADA)
ENST00000492931.5:n.749A>G (ADA)
ENST00000536532.5:c.665A>G (ADA)	ENSP00000440946.1:p.Glu222Gly
ENST00000537820.1:c.607-90A>G (ADA)	ENSP00000441818.1:n.607-90A>G
ENST00000539235.5:c.*49A>G (ADA)	ENSP00000446464.1:n.*49A>G
NM_000022.2:c.665A>G , LRG_16t1:c.665A>G (ADA)	NP_000013.2:p.Glu222Gly
XM_005260236.2:c.607-90A>G (ADA)	XP_005260293.1:n.607-90A>G
XM_011528478.1:c.260A>G (ADA)	XP_011526780.1:p.Glu87Gly
XM_011528479.1:c.260A>G (ADA)	XP_011526781.1:p.Glu87Gly
XR_244129.1:n.719A>G (ADA)
NM_000022.3:c.665A>G (ADA)	NP_000013.2:p.Glu222Gly
NM_001322050.1:c.260A>G (ADA)	NP_001308979.1:p.Glu87Gly
NM_001322051.1:c.607-90A>G (ADA)	NP_001308980.1:n.607-90A>G
NR_136160.1:n.816A>G (ADA)
NM_000022.4:c.665A>G (ADA) MANE Select	NP_000013.2:p.Glu222Gly
NM_001322050.2:c.260A>G (ADA)	NP_001308979.1:p.Glu87Gly
NM_001322051.2:c.607-90A>G (ADA)	NP_001308980.1:n.607-90A>G
NR_136160.2:n.757A>G (ADA)