Canonical Allele Identifier: CA409120971

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43252955A>T (hg19) ; chr20:g.44624314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624314A>T , CM000682.2:g.44624314A>T	GRCh38
NC_000020.10:g.43252955A>T , CM000682.1:g.43252955A>T	GRCh37
NC_000020.9:g.42686369A>T	NCBI36
NG_007385.1:g.32422T>A , LRG_16:g.32422T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.585T>A
ENST00000536076.2:c.341T>A	ENSP00000512234.1:p.Val114Glu
ENST00000536532.6:c.494T>A	ENSP00000440946.1:p.Val165Glu
ENST00000537820.2:c.494T>A	ENSP00000441818.1:p.Val165Glu
ENST00000539235.6:c.219-1236T>A	ENSP00000446464.1:n.219-1236T>A
ENST00000695889.1:c.219-1384T>A	ENSP00000512240.1:n.219-1384T>A
ENST00000695890.1:n.2297T>A
ENST00000695891.1:c.219-1384T>A	ENSP00000512241.1:n.219-1384T>A
ENST00000695927.1:c.572T>A	ENSP00000512270.1:p.Val191Glu
ENST00000695949.1:c.491T>A	ENSP00000512281.1:p.Val164Glu
ENST00000695957.1:c.378T>A	ENSP00000512286.1:p.Gly126=
ENST00000695991.1:c.217-1384T>A	ENSP00000512314.1:n.217-1384T>A
ENST00000695992.1:c.494T>A	ENSP00000512315.1:p.Val165Glu
ENST00000695993.1:c.494T>A	ENSP00000512316.1:p.Val165Glu
ENST00000695994.1:c.494T>A	ENSP00000512317.1:p.Val165Glu
ENST00000695995.1:c.217-1236T>A	ENSP00000512318.1:n.217-1236T>A
ENST00000695996.1:n.565T>A
ENST00000695997.1:n.449T>A
ENST00000696003.1:n.586T>A
ENST00000696004.1:n.586T>A
ENST00000696005.1:c.16T>A
ENST00000696006.1:c.494T>A	ENSP00000512325.1:p.Val165Glu
ENST00000696007.1:c.345T>A	ENSP00000512326.1:p.Gly115=
ENST00000696008.1:n.1649T>A
ENST00000696009.1:n.1844T>A
ENST00000696017.1:c.491T>A	ENSP00000512333.1:p.Val164Glu
ENST00000696034.1:c.494T>A	ENSP00000512343.1:p.Val165Glu
ENST00000696035.1:n.604T>A
ENST00000696036.1:n.1184T>A
ENST00000696037.1:n.2171T>A
ENST00000696038.1:c.*240T>A	ENSP00000512344.1:n.*240T>A
ENST00000696039.1:n.782T>A
ENST00000696058.1:c.494T>A	ENSP00000512361.1:p.Val165Glu
ENST00000696059.1:c.*439T>A	ENSP00000512362.1:n.*439T>A
ENST00000696060.1:c.494T>A	ENSP00000512363.1:p.Val165Glu
ENST00000696061.1:c.491T>A	ENSP00000512364.1:p.Val164Glu
ENST00000696062.1:c.557T>A	ENSP00000512365.1:p.Val186Glu
ENST00000696063.1:c.569T>A	ENSP00000512366.1:p.Val190Glu
ENST00000696064.1:c.341T>A	ENSP00000512367.1:p.Val114Glu
ENST00000696065.1:c.66-1384T>A	ENSP00000512368.1:n.66-1384T>A
ENST00000696074.1:n.110T>A
ENST00000696075.1:c.*464T>A	ENSP00000512374.1:n.*464T>A
ENST00000696076.1:c.494T>A	ENSP00000512375.1:p.Val165Glu
ENST00000696077.1:c.491T>A	ENSP00000512376.1:p.Val164Glu
ENST00000696078.1:c.494T>A	ENSP00000512377.1:p.Val165Glu
ENST00000696079.1:c.494T>A	ENSP00000512378.1:p.Val165Glu
ENST00000696080.1:c.494T>A	ENSP00000512379.1:p.Val165Glu
ENST00000696081.1:n.613T>A
ENST00000696082.1:c.572T>A	ENSP00000512380.1:p.Val191Glu
ENST00000696083.1:n.1375T>A
ENST00000696084.1:n.595T>A
ENST00000696104.1:c.363-1384T>A	ENSP00000512399.1:n.363-1384T>A
ENST00000696105.1:c.*35T>A	ENSP00000512400.1:n.*35T>A
ENST00000372874.9:c.494T>A MANE Select	ENSP00000361965.4:p.Val165Glu
ENST00000372874.8:c.494T>A	ENSP00000361965.4:p.Val165Glu
ENST00000464097.5:n.168T>A
ENST00000492931.5:n.578T>A
ENST00000536532.5:c.494T>A	ENSP00000440946.1:p.Val165Glu
ENST00000537820.1:c.494T>A	ENSP00000441818.1:p.Val165Glu
ENST00000539235.5:c.219-1236T>A	ENSP00000446464.1:n.219-1236T>A
NM_000022.2:c.494T>A , LRG_16t1:c.494T>A	NP_000013.2:p.Val165Glu
XM_005260236.2:c.494T>A	XP_005260293.1:p.Val165Glu
XM_011528478.1:c.89T>A	XP_011526780.1:p.Val30Glu
XM_011528479.1:c.89T>A	XP_011526781.1:p.Val30Glu
XR_244129.1:n.548T>A
NM_000022.3:c.494T>A	NP_000013.2:p.Val165Glu
NM_001322050.1:c.89T>A	NP_001308979.1:p.Val30Glu
NM_001322051.1:c.494T>A	NP_001308980.1:p.Val165Glu
NR_136160.1:n.645T>A
NM_000022.4:c.494T>A MANE Select	NP_000013.2:p.Val165Glu
NM_001322050.2:c.89T>A	NP_001308979.1:p.Val30Glu
NM_001322051.2:c.494T>A	NP_001308980.1:p.Val165Glu
NR_136160.2:n.586T>A