Canonical Allele Identifier: CA409120378

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251650C>T (hg19) ; chr20:g.44623009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623009C>T , CM000682.2:g.44623009C>T	GRCh38
NC_000020.10:g.43251650C>T , CM000682.1:g.43251650C>T	GRCh37
NC_000020.9:g.42685064C>T	NCBI36
NG_007385.1:g.33727G>A , LRG_16:g.33727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.767G>A (ADA)
ENST00000536076.2:c.523G>A (ADA)	ENSP00000512234.1:p.Glu175Lys
ENST00000536532.6:c.676G>A (ADA)	ENSP00000440946.1:p.Glu226Lys
ENST00000537820.2:c.607-79G>A (ADA)	ENSP00000441818.1:n.607-79G>A
ENST00000539235.6:c.*60G>A (ADA)	ENSP00000446464.1:n.*60G>A
ENST00000695889.1:c.219-79G>A (ADA)	ENSP00000512240.1:n.219-79G>A
ENST00000695890.1:n.2479G>A (ADA)
ENST00000695891.1:c.219-79G>A (ADA)	ENSP00000512241.1:n.219-79G>A
ENST00000695927.1:c.754G>A (ADA)	ENSP00000512270.1:p.Glu252Lys
ENST00000695949.1:c.604-79G>A (ADA)	ENSP00000512281.1:n.604-79G>A
ENST00000695957.1:c.*167G>A (ADA)	ENSP00000512286.1:n.*167G>A
ENST00000695991.1:c.217-79G>A (ADA)	ENSP00000512314.1:n.217-79G>A
ENST00000695992.1:c.676G>A (ADA)	ENSP00000512315.1:p.Glu226Lys
ENST00000695993.1:c.676G>A (ADA)	ENSP00000512316.1:p.Glu226Lys
ENST00000695994.1:c.651+25G>A (ADA)	ENSP00000512317.1:n.651+25G>A
ENST00000695995.1:c.286G>A (ADA)	ENSP00000512318.1:p.Glu96Lys
ENST00000695996.1:n.747G>A (ADA)
ENST00000696003.1:n.768G>A (ADA)
ENST00000696004.1:n.768G>A (ADA)
ENST00000696005.1:c.129-79G>A (ADA)
ENST00000696006.1:c.607-79G>A (ADA)	ENSP00000512325.1:n.607-79G>A
ENST00000696007.1:c.527G>A (ADA)	ENSP00000512326.1:n.527G>A
ENST00000696008.1:n.2954G>A (ADA)
ENST00000696017.1:c.673G>A (ADA)	ENSP00000512333.1:p.Glu225Lys
ENST00000696034.1:c.676G>A (ADA)	ENSP00000512343.1:p.Glu226Lys
ENST00000696035.1:n.786G>A (ADA)
ENST00000696036.1:n.1366G>A (ADA)
ENST00000696037.1:n.2353G>A (ADA)
ENST00000696038.1:c.*422G>A (ADA)	ENSP00000512344.1:n.*422G>A
ENST00000696039.1:n.964G>A (ADA)
ENST00000696058.1:c.673G>A (ADA)	ENSP00000512361.1:p.Glu225Lys
ENST00000696059.1:c.*621G>A (ADA)	ENSP00000512362.1:n.*621G>A
ENST00000696060.1:c.745G>A (ADA)	ENSP00000512363.1:p.Glu249Lys
ENST00000696061.1:c.673G>A (ADA)	ENSP00000512364.1:p.Glu225Lys
ENST00000696062.1:c.739G>A (ADA)	ENSP00000512365.1:p.Glu247Lys
ENST00000696063.1:c.751G>A (ADA)	ENSP00000512366.1:p.Glu251Lys
ENST00000696064.1:c.523G>A (ADA)	ENSP00000512367.1:p.Glu175Lys
ENST00000696065.1:c.66-79G>A (ADA)	ENSP00000512368.1:n.66-79G>A
ENST00000696073.1:n.911G>A (ADA)
ENST00000696074.1:n.292G>A (ADA)
ENST00000696075.1:c.*646G>A (ADA)	ENSP00000512374.1:n.*646G>A
ENST00000696076.1:c.745G>A (ADA)	ENSP00000512375.1:p.Glu249Lys
ENST00000696077.1:c.670G>A (ADA)	ENSP00000512376.1:p.Glu224Lys
ENST00000696078.1:c.673G>A (ADA)	ENSP00000512377.1:p.Glu225Lys
ENST00000696079.1:c.673G>A (ADA)	ENSP00000512378.1:p.Glu225Lys
ENST00000696080.1:c.676G>A (ADA)	ENSP00000512379.1:p.Glu226Lys
ENST00000696081.1:n.795G>A (ADA)
ENST00000696082.1:c.751G>A (ADA)	ENSP00000512380.1:p.Glu251Lys
ENST00000696083.1:n.1557G>A (ADA)
ENST00000696084.1:n.777G>A (ADA)
ENST00000696104.1:c.363-79G>A (ADA)	ENSP00000512399.1:n.363-79G>A
ENST00000696105.1:c.*217G>A (ADA)	ENSP00000512400.1:n.*217G>A
ENST00000372874.9:c.676G>A (ADA) MANE Select	ENSP00000361965.4:p.Glu226Lys
ENST00000372874.8:c.676G>A (ADA)	ENSP00000361965.4:p.Glu226Lys
ENST00000372887.5:c.152-924C>T (PKIG)	ENSP00000361978.1:n.152-924C>T
ENST00000464097.5:n.350G>A (ADA)
ENST00000492931.5:n.760G>A (ADA)
ENST00000536532.5:c.676G>A (ADA)	ENSP00000440946.1:p.Glu226Lys
ENST00000537820.1:c.607-79G>A (ADA)	ENSP00000441818.1:n.607-79G>A
ENST00000539235.5:c.*60G>A (ADA)	ENSP00000446464.1:n.*60G>A
NM_000022.2:c.676G>A , LRG_16t1:c.676G>A (ADA)	NP_000013.2:p.Glu226Lys
XM_005260236.2:c.607-79G>A (ADA)	XP_005260293.1:n.607-79G>A
XM_011528478.1:c.271G>A (ADA)	XP_011526780.1:p.Glu91Lys
XM_011528479.1:c.271G>A (ADA)	XP_011526781.1:p.Glu91Lys
XR_244129.1:n.730G>A (ADA)
NM_000022.3:c.676G>A (ADA)	NP_000013.2:p.Glu226Lys
NM_001322050.1:c.271G>A (ADA)	NP_001308979.1:p.Glu91Lys
NM_001322051.1:c.607-79G>A (ADA)	NP_001308980.1:n.607-79G>A
NR_136160.1:n.827G>A (ADA)
NM_000022.4:c.676G>A (ADA) MANE Select	NP_000013.2:p.Glu226Lys
NM_001322050.2:c.271G>A (ADA)	NP_001308979.1:p.Glu91Lys
NM_001322051.2:c.607-79G>A (ADA)	NP_001308980.1:n.607-79G>A
NR_136160.2:n.768G>A (ADA)