Canonical Allele Identifier: CA409121523

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43255220T>A (hg19) ; chr20:g.44626579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626579T>A , CM000682.2:g.44626579T>A	GRCh38
NC_000020.10:g.43255220T>A , CM000682.1:g.43255220T>A	GRCh37
NC_000020.9:g.42688634T>A	NCBI36
NG_007385.1:g.30157A>T , LRG_16:g.30157A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.330A>T
ENST00000536076.2:c.86A>T	ENSP00000512234.1:p.Lys29Ile
ENST00000536532.6:c.239A>T	ENSP00000440946.1:p.Lys80Ile
ENST00000537820.2:c.239A>T	ENSP00000441818.1:p.Lys80Ile
ENST00000539235.6:c.218+2468A>T	ENSP00000446464.1:n.218+2468A>T
ENST00000695889.1:c.218+2468A>T	ENSP00000512240.1:n.218+2468A>T
ENST00000695890.1:n.2042A>T
ENST00000695891.1:c.218+2468A>T	ENSP00000512241.1:n.218+2468A>T
ENST00000695927.1:c.317A>T	ENSP00000512270.1:p.Lys106Ile
ENST00000695949.1:c.236A>T	ENSP00000512281.1:p.Lys79Ile
ENST00000695957.1:c.239A>T	ENSP00000512286.1:p.Lys80Ile
ENST00000695991.1:c.216+2470A>T	ENSP00000512314.1:n.216+2470A>T
ENST00000695992.1:c.239A>T	ENSP00000512315.1:p.Lys80Ile
ENST00000695993.1:c.239A>T	ENSP00000512316.1:p.Lys80Ile
ENST00000695994.1:c.239A>T	ENSP00000512317.1:p.Lys80Ile
ENST00000695995.1:c.216+2470A>T	ENSP00000512318.1:n.216+2470A>T
ENST00000695996.1:n.310A>T
ENST00000695997.1:n.310A>T
ENST00000696003.1:n.331A>T
ENST00000696004.1:n.331A>T
ENST00000696006.1:c.239A>T	ENSP00000512325.1:p.Lys80Ile
ENST00000696007.1:c.206A>T	ENSP00000512326.1:p.Lys69Ile
ENST00000696009.1:n.350A>T
ENST00000696017.1:c.236A>T	ENSP00000512333.1:p.Lys79Ile
ENST00000696034.1:c.239A>T	ENSP00000512343.1:p.Lys80Ile
ENST00000696035.1:n.349A>T
ENST00000696036.1:n.929A>T
ENST00000696037.1:n.1916A>T
ENST00000696038.1:c.237A>T	ENSP00000512344.1:p.Gln79His
ENST00000696039.1:n.527A>T
ENST00000696058.1:c.239A>T	ENSP00000512361.1:p.Lys80Ile
ENST00000696059.1:c.*184A>T	ENSP00000512362.1:n.*184A>T
ENST00000696060.1:c.239A>T	ENSP00000512363.1:p.Lys80Ile
ENST00000696061.1:c.236A>T	ENSP00000512364.1:p.Lys79Ile
ENST00000696062.1:c.302A>T	ENSP00000512365.1:p.Lys101Ile
ENST00000696063.1:c.314A>T	ENSP00000512366.1:p.Lys105Ile
ENST00000696064.1:c.86A>T	ENSP00000512367.1:p.Lys29Ile
ENST00000696065.1:c.65+2468A>T	ENSP00000512368.1:n.65+2468A>T
ENST00000696075.1:c.*209A>T	ENSP00000512374.1:n.*209A>T
ENST00000696076.1:c.239A>T	ENSP00000512375.1:p.Lys80Ile
ENST00000696077.1:c.236A>T	ENSP00000512376.1:p.Lys79Ile
ENST00000696078.1:c.239A>T	ENSP00000512377.1:p.Lys80Ile
ENST00000696079.1:c.239A>T	ENSP00000512378.1:p.Lys80Ile
ENST00000696080.1:c.239A>T	ENSP00000512379.1:p.Lys80Ile
ENST00000696082.1:c.317A>T	ENSP00000512380.1:p.Lys106Ile
ENST00000696084.1:n.340A>T
ENST00000696104.1:c.239A>T	ENSP00000512399.1:p.Lys80Ile
ENST00000696105.1:c.239A>T	ENSP00000512400.1:p.Lys80Ile
ENST00000372874.9:c.239A>T MANE Select	ENSP00000361965.4:p.Lys80Ile
ENST00000372874.8:c.239A>T	ENSP00000361965.4:p.Lys80Ile
ENST00000492931.5:n.323A>T
ENST00000536076.1:n.419A>T
ENST00000536532.5:c.239A>T	ENSP00000440946.1:p.Lys80Ile
ENST00000537820.1:c.239A>T	ENSP00000441818.1:p.Lys80Ile
ENST00000539235.5:c.218+2468A>T	ENSP00000446464.1:n.218+2468A>T
ENST00000545776.5:n.293A>T
NM_000022.2:c.239A>T , LRG_16t1:c.239A>T	NP_000013.2:p.Lys80Ile
XM_005260236.2:c.239A>T	XP_005260293.1:p.Lys80Ile
XM_011528478.1:c.-51A>T	XP_011526780.1:n.-51A>T
XM_011528479.1:c.-51A>T	XP_011526781.1:n.-51A>T
XR_244129.1:n.293A>T
NM_000022.3:c.239A>T	NP_000013.2:p.Lys80Ile
NM_001322051.1:c.239A>T	NP_001308980.1:p.Lys80Ile
NM_000022.4:c.239A>T MANE Select	NP_000013.2:p.Lys80Ile
NM_001322050.2:c.-51A>T	NP_001308979.1:n.-51A>T
NM_001322051.2:c.239A>T	NP_001308980.1:p.Lys80Ile
NR_136160.2:n.331A>T