Canonical Allele Identifier: CA409121111

Gene: ADA

Linked Data

• ClinVar Variation Id: 999081
• ClinVar RCV Id: RCV001295031
• dbSNP Id: rs1568845422
• gnomAD v4: 20-44625614-C-G
• MyVariant Identifiers: chr20:g.43254255C>G (hg19) ; chr20:g.44625614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625614C>G , CM000682.2:g.44625614C>G	GRCh38
NC_000020.10:g.43254255C>G , CM000682.1:g.43254255C>G	GRCh37
NC_000020.9:g.42687669C>G	NCBI36
NG_007385.1:g.31122G>C , LRG_16:g.31122G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.524G>C
ENST00000536076.2:c.280G>C	ENSP00000512234.1:p.Gly94Arg
ENST00000536532.6:c.433G>C	ENSP00000440946.1:p.Gly145Arg
ENST00000537820.2:c.433G>C	ENSP00000441818.1:p.Gly145Arg
ENST00000539235.6:c.219-2536G>C	ENSP00000446464.1:n.219-2536G>C
ENST00000695889.1:c.219-2684G>C	ENSP00000512240.1:n.219-2684G>C
ENST00000695890.1:n.2236G>C
ENST00000695891.1:c.219-2684G>C	ENSP00000512241.1:n.219-2684G>C
ENST00000695927.1:c.511G>C	ENSP00000512270.1:p.Gly171Arg
ENST00000695949.1:c.430G>C	ENSP00000512281.1:p.Gly144Arg
ENST00000695957.1:c.362+842G>C	ENSP00000512286.1:n.362+842G>C
ENST00000695991.1:c.217-2684G>C	ENSP00000512314.1:n.217-2684G>C
ENST00000695992.1:c.433G>C	ENSP00000512315.1:p.Gly145Arg
ENST00000695993.1:c.433G>C	ENSP00000512316.1:p.Gly145Arg
ENST00000695994.1:c.433G>C	ENSP00000512317.1:p.Gly145Arg
ENST00000695995.1:c.217-2536G>C	ENSP00000512318.1:n.217-2536G>C
ENST00000695996.1:n.504G>C
ENST00000695997.1:n.433+842G>C
ENST00000696003.1:n.525G>C
ENST00000696004.1:n.525G>C
ENST00000696006.1:c.433G>C	ENSP00000512325.1:p.Gly145Arg
ENST00000696007.1:c.329+842G>C	ENSP00000512326.1:n.329+842G>C
ENST00000696008.1:n.349G>C
ENST00000696009.1:n.544G>C
ENST00000696017.1:c.430G>C	ENSP00000512333.1:p.Gly144Arg
ENST00000696034.1:c.433G>C	ENSP00000512343.1:p.Gly145Arg
ENST00000696035.1:n.543G>C
ENST00000696036.1:n.1123G>C
ENST00000696037.1:n.2110G>C
ENST00000696038.1:c.*179G>C	ENSP00000512344.1:n.*179G>C
ENST00000696039.1:n.721G>C
ENST00000696058.1:c.433G>C	ENSP00000512361.1:p.Gly145Arg
ENST00000696059.1:c.*378G>C	ENSP00000512362.1:n.*378G>C
ENST00000696060.1:c.433G>C	ENSP00000512363.1:p.Gly145Arg
ENST00000696061.1:c.430G>C	ENSP00000512364.1:p.Gly144Arg
ENST00000696062.1:c.496G>C	ENSP00000512365.1:p.Gly166Arg
ENST00000696063.1:c.508G>C	ENSP00000512366.1:p.Gly170Arg
ENST00000696064.1:c.280G>C	ENSP00000512367.1:p.Gly94Arg
ENST00000696065.1:c.66-2684G>C	ENSP00000512368.1:n.66-2684G>C
ENST00000696075.1:c.*403G>C	ENSP00000512374.1:n.*403G>C
ENST00000696076.1:c.433G>C	ENSP00000512375.1:p.Gly145Arg
ENST00000696077.1:c.430G>C	ENSP00000512376.1:p.Gly144Arg
ENST00000696078.1:c.433G>C	ENSP00000512377.1:p.Gly145Arg
ENST00000696079.1:c.433G>C	ENSP00000512378.1:p.Gly145Arg
ENST00000696080.1:c.433G>C	ENSP00000512379.1:p.Gly145Arg
ENST00000696082.1:c.511G>C	ENSP00000512380.1:p.Gly171Arg
ENST00000696083.1:n.75G>C
ENST00000696084.1:n.534G>C
ENST00000696104.1:c.362+842G>C	ENSP00000512399.1:n.362+842G>C
ENST00000696105.1:c.433G>C	ENSP00000512400.1:p.Gly145Arg
ENST00000372874.9:c.433G>C MANE Select	ENSP00000361965.4:p.Gly145Arg
ENST00000372874.8:c.433G>C	ENSP00000361965.4:p.Gly145Arg
ENST00000464097.5:n.107G>C
ENST00000492931.5:n.517G>C
ENST00000536532.5:c.433G>C	ENSP00000440946.1:p.Gly145Arg
ENST00000537820.1:c.433G>C	ENSP00000441818.1:p.Gly145Arg
ENST00000539235.5:c.219-2536G>C	ENSP00000446464.1:n.219-2536G>C
NM_000022.2:c.433G>C , LRG_16t1:c.433G>C	NP_000013.2:p.Gly145Arg
XM_005260236.2:c.433G>C	XP_005260293.1:p.Gly145Arg
XM_011528478.1:c.73+842G>C	XP_011526780.1:n.73+842G>C
XM_011528479.1:c.73+842G>C	XP_011526781.1:n.73+842G>C
XR_244129.1:n.487G>C
NM_000022.3:c.433G>C	NP_000013.2:p.Gly145Arg
NM_001322050.1:c.73+842G>C	NP_001308979.1:n.73+842G>C
NM_001322051.1:c.433G>C	NP_001308980.1:p.Gly145Arg
NR_136160.1:n.584G>C
NM_000022.4:c.433G>C MANE Select	NP_000013.2:p.Gly145Arg
NM_001322050.2:c.73+842G>C	NP_001308979.1:n.73+842G>C
NM_001322051.2:c.433G>C	NP_001308980.1:p.Gly145Arg
NR_136160.2:n.525G>C