Canonical Allele Identifier: CA409120813

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43252881C>T (hg19) ; chr20:g.44624240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624240C>T , CM000682.2:g.44624240C>T	GRCh38
NC_000020.10:g.43252881C>T , CM000682.1:g.43252881C>T	GRCh37
NC_000020.9:g.42686295C>T	NCBI36
NG_007385.1:g.32496G>A , LRG_16:g.32496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.659G>A (ADA)
ENST00000536076.2:c.415G>A (ADA)	ENSP00000512234.1:p.Gly139Arg
ENST00000536532.6:c.568G>A (ADA)	ENSP00000440946.1:p.Gly190Arg
ENST00000537820.2:c.568G>A (ADA)	ENSP00000441818.1:p.Gly190Arg
ENST00000539235.6:c.219-1162G>A (ADA)	ENSP00000446464.1:n.219-1162G>A
ENST00000695889.1:c.219-1310G>A (ADA)	ENSP00000512240.1:n.219-1310G>A
ENST00000695890.1:n.2371G>A (ADA)
ENST00000695891.1:c.219-1310G>A (ADA)	ENSP00000512241.1:n.219-1310G>A
ENST00000695927.1:c.646G>A (ADA)	ENSP00000512270.1:p.Gly216Arg
ENST00000695949.1:c.565G>A (ADA)	ENSP00000512281.1:p.Gly189Arg
ENST00000695957.1:c.*59G>A (ADA)	ENSP00000512286.1:n.*59G>A
ENST00000695991.1:c.217-1310G>A (ADA)	ENSP00000512314.1:n.217-1310G>A
ENST00000695992.1:c.568G>A (ADA)	ENSP00000512315.1:p.Gly190Arg
ENST00000695993.1:c.568G>A (ADA)	ENSP00000512316.1:p.Gly190Arg
ENST00000695994.1:c.568G>A (ADA)	ENSP00000512317.1:p.Gly190Arg
ENST00000695995.1:c.217-1162G>A (ADA)	ENSP00000512318.1:n.217-1162G>A
ENST00000695996.1:n.639G>A (ADA)
ENST00000695997.1:n.523G>A (ADA)
ENST00000696003.1:n.660G>A (ADA)
ENST00000696004.1:n.660G>A (ADA)
ENST00000696005.1:c.90G>A (ADA)
ENST00000696006.1:c.568G>A (ADA)	ENSP00000512325.1:p.Gly190Arg
ENST00000696007.1:c.419G>A (ADA)	ENSP00000512326.1:n.419G>A
ENST00000696008.1:n.1723G>A (ADA)
ENST00000696009.1:n.1918G>A (ADA)
ENST00000696017.1:c.565G>A (ADA)	ENSP00000512333.1:p.Gly189Arg
ENST00000696034.1:c.568G>A (ADA)	ENSP00000512343.1:p.Gly190Arg
ENST00000696035.1:n.678G>A (ADA)
ENST00000696036.1:n.1258G>A (ADA)
ENST00000696037.1:n.2245G>A (ADA)
ENST00000696038.1:c.*314G>A (ADA)	ENSP00000512344.1:n.*314G>A
ENST00000696039.1:n.856G>A (ADA)
ENST00000696058.1:c.568G>A (ADA)	ENSP00000512361.1:p.Gly190Arg
ENST00000696059.1:c.*513G>A (ADA)	ENSP00000512362.1:n.*513G>A
ENST00000696060.1:c.568G>A (ADA)	ENSP00000512363.1:p.Gly190Arg
ENST00000696061.1:c.565G>A (ADA)	ENSP00000512364.1:p.Gly189Arg
ENST00000696062.1:c.631G>A (ADA)	ENSP00000512365.1:p.Gly211Arg
ENST00000696063.1:c.643G>A (ADA)	ENSP00000512366.1:p.Gly215Arg
ENST00000696064.1:c.415G>A (ADA)	ENSP00000512367.1:p.Gly139Arg
ENST00000696065.1:c.66-1310G>A (ADA)	ENSP00000512368.1:n.66-1310G>A
ENST00000696074.1:n.184G>A (ADA)
ENST00000696075.1:c.*538G>A (ADA)	ENSP00000512374.1:n.*538G>A
ENST00000696076.1:c.568G>A (ADA)	ENSP00000512375.1:p.Gly190Arg
ENST00000696077.1:c.565G>A (ADA)	ENSP00000512376.1:p.Gly189Arg
ENST00000696078.1:c.568G>A (ADA)	ENSP00000512377.1:p.Gly190Arg
ENST00000696079.1:c.568G>A (ADA)	ENSP00000512378.1:p.Gly190Arg
ENST00000696080.1:c.568G>A (ADA)	ENSP00000512379.1:p.Gly190Arg
ENST00000696081.1:n.687G>A (ADA)
ENST00000696082.1:c.646G>A (ADA)	ENSP00000512380.1:p.Gly216Arg
ENST00000696083.1:n.1449G>A (ADA)
ENST00000696084.1:n.669G>A (ADA)
ENST00000696104.1:c.363-1310G>A (ADA)	ENSP00000512399.1:n.363-1310G>A
ENST00000696105.1:c.*109G>A (ADA)	ENSP00000512400.1:n.*109G>A
ENST00000372874.9:c.568G>A (ADA) MANE Select	ENSP00000361965.4:p.Gly190Arg
ENST00000372874.8:c.568G>A (ADA)	ENSP00000361965.4:p.Gly190Arg
ENST00000372887.5:c.*264C>T (PKIG)	ENSP00000361978.1:n.*264C>T
ENST00000464097.5:n.242G>A (ADA)
ENST00000492931.5:n.652G>A (ADA)
ENST00000536532.5:c.568G>A (ADA)	ENSP00000440946.1:p.Gly190Arg
ENST00000537820.1:c.568G>A (ADA)	ENSP00000441818.1:p.Gly190Arg
ENST00000539235.5:c.219-1162G>A (ADA)	ENSP00000446464.1:n.219-1162G>A
NM_000022.2:c.568G>A , LRG_16t1:c.568G>A (ADA)	NP_000013.2:p.Gly190Arg
XM_005260236.2:c.568G>A (ADA)	XP_005260293.1:p.Gly190Arg
XM_011528478.1:c.163G>A (ADA)	XP_011526780.1:p.Gly55Arg
XM_011528479.1:c.163G>A (ADA)	XP_011526781.1:p.Gly55Arg
XR_244129.1:n.622G>A (ADA)
NM_000022.3:c.568G>A (ADA)	NP_000013.2:p.Gly190Arg
NM_001322050.1:c.163G>A (ADA)	NP_001308979.1:p.Gly55Arg
NM_001322051.1:c.568G>A (ADA)	NP_001308980.1:p.Gly190Arg
NR_136160.1:n.719G>A (ADA)
NM_000022.4:c.568G>A (ADA) MANE Select	NP_000013.2:p.Gly190Arg
NM_001322050.2:c.163G>A (ADA)	NP_001308979.1:p.Gly55Arg
NM_001322051.2:c.568G>A (ADA)	NP_001308980.1:p.Gly190Arg
NR_136160.2:n.660G>A (ADA)