Canonical Allele Identifier: CA9871641

Gene: ADA

Linked Data

• ClinVar Variation Id: 373095
• ClinVar RCV Id: RCV000413364 ; RCV001346105
• dbSNP Id: rs371134570
• ExAC: 20:43252941 T / C
• gnomAD v2: 20-43252941-T-C
• gnomAD v3: 20-44624300-T-C
• gnomAD v4: 20-44624300-T-C
• MyVariant Identifiers: chr20:g.43252941T>C (hg19) ; chr20:g.44624300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624300T>C , CM000682.2:g.44624300T>C	GRCh38
NC_000020.10:g.43252941T>C , CM000682.1:g.43252941T>C	GRCh37
NC_000020.9:g.42686355T>C	NCBI36
NG_007385.1:g.32436A>G , LRG_16:g.32436A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.599A>G
ENST00000536076.2:c.355A>G	ENSP00000512234.1:p.Lys119Glu
ENST00000536532.6:c.508A>G	ENSP00000440946.1:p.Lys170Glu
ENST00000537820.2:c.508A>G	ENSP00000441818.1:p.Lys170Glu
ENST00000539235.6:c.219-1222A>G	ENSP00000446464.1:n.219-1222A>G
ENST00000695889.1:c.219-1370A>G	ENSP00000512240.1:n.219-1370A>G
ENST00000695890.1:n.2311A>G
ENST00000695891.1:c.219-1370A>G	ENSP00000512241.1:n.219-1370A>G
ENST00000695927.1:c.586A>G	ENSP00000512270.1:p.Lys196Glu
ENST00000695949.1:c.505A>G	ENSP00000512281.1:p.Lys169Glu
ENST00000695957.1:c.392A>G	ENSP00000512286.1:p.Ter131=
ENST00000695991.1:c.217-1370A>G	ENSP00000512314.1:n.217-1370A>G
ENST00000695992.1:c.508A>G	ENSP00000512315.1:p.Lys170Glu
ENST00000695993.1:c.508A>G	ENSP00000512316.1:p.Lys170Glu
ENST00000695994.1:c.508A>G	ENSP00000512317.1:p.Lys170Glu
ENST00000695995.1:c.217-1222A>G	ENSP00000512318.1:n.217-1222A>G
ENST00000695996.1:n.579A>G
ENST00000695997.1:n.463A>G
ENST00000696003.1:n.600A>G
ENST00000696004.1:n.600A>G
ENST00000696005.1:c.30A>G
ENST00000696006.1:c.508A>G	ENSP00000512325.1:p.Lys170Glu
ENST00000696007.1:c.359A>G	ENSP00000512326.1:p.Ter120=
ENST00000696008.1:n.1663A>G
ENST00000696009.1:n.1858A>G
ENST00000696017.1:c.505A>G	ENSP00000512333.1:p.Lys169Glu
ENST00000696034.1:c.508A>G	ENSP00000512343.1:p.Lys170Glu
ENST00000696035.1:n.618A>G
ENST00000696036.1:n.1198A>G
ENST00000696037.1:n.2185A>G
ENST00000696038.1:c.*254A>G	ENSP00000512344.1:n.*254A>G
ENST00000696039.1:n.796A>G
ENST00000696058.1:c.508A>G	ENSP00000512361.1:p.Lys170Glu
ENST00000696059.1:c.*453A>G	ENSP00000512362.1:n.*453A>G
ENST00000696060.1:c.508A>G	ENSP00000512363.1:p.Lys170Glu
ENST00000696061.1:c.505A>G	ENSP00000512364.1:p.Lys169Glu
ENST00000696062.1:c.571A>G	ENSP00000512365.1:p.Lys191Glu
ENST00000696063.1:c.583A>G	ENSP00000512366.1:p.Lys195Glu
ENST00000696064.1:c.355A>G	ENSP00000512367.1:p.Lys119Glu
ENST00000696065.1:c.66-1370A>G	ENSP00000512368.1:n.66-1370A>G
ENST00000696074.1:n.124A>G
ENST00000696075.1:c.*478A>G	ENSP00000512374.1:n.*478A>G
ENST00000696076.1:c.508A>G	ENSP00000512375.1:p.Lys170Glu
ENST00000696077.1:c.505A>G	ENSP00000512376.1:p.Lys169Glu
ENST00000696078.1:c.508A>G	ENSP00000512377.1:p.Lys170Glu
ENST00000696079.1:c.508A>G	ENSP00000512378.1:p.Lys170Glu
ENST00000696080.1:c.508A>G	ENSP00000512379.1:p.Lys170Glu
ENST00000696081.1:n.627A>G
ENST00000696082.1:c.586A>G	ENSP00000512380.1:p.Lys196Glu
ENST00000696083.1:n.1389A>G
ENST00000696084.1:n.609A>G
ENST00000696104.1:c.363-1370A>G	ENSP00000512399.1:n.363-1370A>G
ENST00000696105.1:c.*49A>G	ENSP00000512400.1:n.*49A>G
ENST00000372874.9:c.508A>G MANE Select	ENSP00000361965.4:p.Lys170Glu
ENST00000372874.8:c.508A>G	ENSP00000361965.4:p.Lys170Glu
ENST00000464097.5:n.182A>G
ENST00000492931.5:n.592A>G
ENST00000536532.5:c.508A>G	ENSP00000440946.1:p.Lys170Glu
ENST00000537820.1:c.508A>G	ENSP00000441818.1:p.Lys170Glu
ENST00000539235.5:c.219-1222A>G	ENSP00000446464.1:n.219-1222A>G
NM_000022.2:c.508A>G , LRG_16t1:c.508A>G	NP_000013.2:p.Lys170Glu
XM_005260236.2:c.508A>G	XP_005260293.1:p.Lys170Glu
XM_011528478.1:c.103A>G	XP_011526780.1:p.Lys35Glu
XM_011528479.1:c.103A>G	XP_011526781.1:p.Lys35Glu
XR_244129.1:n.562A>G
NM_000022.3:c.508A>G	NP_000013.2:p.Lys170Glu
NM_001322050.1:c.103A>G	NP_001308979.1:p.Lys35Glu
NM_001322051.1:c.508A>G	NP_001308980.1:p.Lys170Glu
NR_136160.1:n.659A>G
NM_000022.4:c.508A>G MANE Select	NP_000013.2:p.Lys170Glu
NM_001322050.2:c.103A>G	NP_001308979.1:p.Lys35Glu
NM_001322051.2:c.508A>G	NP_001308980.1:p.Lys170Glu
NR_136160.2:n.600A>G