Canonical Allele Identifier: CA409120840

Gene: ADA

Linked Data

• ClinVar Variation Id: 556213
• ClinVar RCV Id: RCV000672186
• dbSNP Id: rs1555844416
• MyVariant Identifiers: chr20:g.43252893C>T (hg19) ; chr20:g.44624252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624252C>T , CM000682.2:g.44624252C>T	GRCh38
NC_000020.10:g.43252893C>T , CM000682.1:g.43252893C>T	GRCh37
NC_000020.9:g.42686307C>T	NCBI36
NG_007385.1:g.32484G>A , LRG_16:g.32484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.647G>A
ENST00000536076.2:c.403G>A	ENSP00000512234.1:p.Glu135Lys
ENST00000536532.6:c.556G>A	ENSP00000440946.1:p.Glu186Lys
ENST00000537820.2:c.556G>A	ENSP00000441818.1:p.Glu186Lys
ENST00000539235.6:c.219-1174G>A	ENSP00000446464.1:n.219-1174G>A
ENST00000695889.1:c.219-1322G>A	ENSP00000512240.1:n.219-1322G>A
ENST00000695890.1:n.2359G>A
ENST00000695891.1:c.219-1322G>A	ENSP00000512241.1:n.219-1322G>A
ENST00000695927.1:c.634G>A	ENSP00000512270.1:p.Glu212Lys
ENST00000695949.1:c.553G>A	ENSP00000512281.1:p.Glu185Lys
ENST00000695957.1:c.*47G>A	ENSP00000512286.1:n.*47G>A
ENST00000695991.1:c.217-1322G>A	ENSP00000512314.1:n.217-1322G>A
ENST00000695992.1:c.556G>A	ENSP00000512315.1:p.Glu186Lys
ENST00000695993.1:c.556G>A	ENSP00000512316.1:p.Glu186Lys
ENST00000695994.1:c.556G>A	ENSP00000512317.1:p.Glu186Lys
ENST00000695995.1:c.217-1174G>A	ENSP00000512318.1:n.217-1174G>A
ENST00000695996.1:n.627G>A
ENST00000695997.1:n.511G>A
ENST00000696003.1:n.648G>A
ENST00000696004.1:n.648G>A
ENST00000696005.1:c.78G>A
ENST00000696006.1:c.556G>A	ENSP00000512325.1:p.Glu186Lys
ENST00000696007.1:c.407G>A	ENSP00000512326.1:n.407G>A
ENST00000696008.1:n.1711G>A
ENST00000696009.1:n.1906G>A
ENST00000696017.1:c.553G>A	ENSP00000512333.1:p.Glu185Lys
ENST00000696034.1:c.556G>A	ENSP00000512343.1:p.Glu186Lys
ENST00000696035.1:n.666G>A
ENST00000696036.1:n.1246G>A
ENST00000696037.1:n.2233G>A
ENST00000696038.1:c.*302G>A	ENSP00000512344.1:n.*302G>A
ENST00000696039.1:n.844G>A
ENST00000696058.1:c.556G>A	ENSP00000512361.1:p.Glu186Lys
ENST00000696059.1:c.*501G>A	ENSP00000512362.1:n.*501G>A
ENST00000696060.1:c.556G>A	ENSP00000512363.1:p.Glu186Lys
ENST00000696061.1:c.553G>A	ENSP00000512364.1:p.Glu185Lys
ENST00000696062.1:c.619G>A	ENSP00000512365.1:p.Glu207Lys
ENST00000696063.1:c.631G>A	ENSP00000512366.1:p.Glu211Lys
ENST00000696064.1:c.403G>A	ENSP00000512367.1:p.Glu135Lys
ENST00000696065.1:c.66-1322G>A	ENSP00000512368.1:n.66-1322G>A
ENST00000696074.1:n.172G>A
ENST00000696075.1:c.*526G>A	ENSP00000512374.1:n.*526G>A
ENST00000696076.1:c.556G>A	ENSP00000512375.1:p.Glu186Lys
ENST00000696077.1:c.553G>A	ENSP00000512376.1:p.Glu185Lys
ENST00000696078.1:c.556G>A	ENSP00000512377.1:p.Glu186Lys
ENST00000696079.1:c.556G>A	ENSP00000512378.1:p.Glu186Lys
ENST00000696080.1:c.556G>A	ENSP00000512379.1:p.Glu186Lys
ENST00000696081.1:n.675G>A
ENST00000696082.1:c.634G>A	ENSP00000512380.1:p.Glu212Lys
ENST00000696083.1:n.1437G>A
ENST00000696084.1:n.657G>A
ENST00000696104.1:c.363-1322G>A	ENSP00000512399.1:n.363-1322G>A
ENST00000696105.1:c.*97G>A	ENSP00000512400.1:n.*97G>A
ENST00000372874.9:c.556G>A MANE Select	ENSP00000361965.4:p.Glu186Lys
ENST00000372874.8:c.556G>A	ENSP00000361965.4:p.Glu186Lys
ENST00000464097.5:n.230G>A
ENST00000492931.5:n.640G>A
ENST00000536532.5:c.556G>A	ENSP00000440946.1:p.Glu186Lys
ENST00000537820.1:c.556G>A	ENSP00000441818.1:p.Glu186Lys
ENST00000539235.5:c.219-1174G>A	ENSP00000446464.1:n.219-1174G>A
NM_000022.2:c.556G>A , LRG_16t1:c.556G>A	NP_000013.2:p.Glu186Lys
XM_005260236.2:c.556G>A	XP_005260293.1:p.Glu186Lys
XM_011528478.1:c.151G>A	XP_011526780.1:p.Glu51Lys
XM_011528479.1:c.151G>A	XP_011526781.1:p.Glu51Lys
XR_244129.1:n.610G>A
NM_000022.3:c.556G>A	NP_000013.2:p.Glu186Lys
NM_001322050.1:c.151G>A	NP_001308979.1:p.Glu51Lys
NM_001322051.1:c.556G>A	NP_001308980.1:p.Glu186Lys
NR_136160.1:n.707G>A
NM_000022.4:c.556G>A MANE Select	NP_000013.2:p.Glu186Lys
NM_001322050.2:c.151G>A	NP_001308979.1:p.Glu51Lys
NM_001322051.2:c.556G>A	NP_001308980.1:p.Glu186Lys
NR_136160.2:n.648G>A