Canonical Allele Identifier: CA2652990859

Gene: ADA

Linked Data

• gnomAD v4: 20-44624340-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624340G>C , CM000682.2:g.44624340G>C	GRCh38
NC_000020.10:g.43252981G>C , CM000682.1:g.43252981G>C	GRCh37
NC_000020.9:g.42686395G>C	NCBI36
NG_007385.1:g.32396C>G , LRG_16:g.32396C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.570-11C>G
ENST00000536076.2:c.326-11C>G	ENSP00000512234.1:n.326-11C>G
ENST00000536532.6:c.479-11C>G	ENSP00000440946.1:n.479-11C>G
ENST00000537820.2:c.479-11C>G	ENSP00000441818.1:n.479-11C>G
ENST00000539235.6:c.219-1262C>G	ENSP00000446464.1:n.219-1262C>G
ENST00000695889.1:c.219-1410C>G	ENSP00000512240.1:n.219-1410C>G
ENST00000695890.1:n.2282-11C>G
ENST00000695891.1:c.219-1410C>G	ENSP00000512241.1:n.219-1410C>G
ENST00000695927.1:c.557-11C>G	ENSP00000512270.1:n.557-11C>G
ENST00000695949.1:c.476-11C>G	ENSP00000512281.1:n.476-11C>G
ENST00000695957.1:c.363-11C>G	ENSP00000512286.1:n.363-11C>G
ENST00000695991.1:c.217-1410C>G	ENSP00000512314.1:n.217-1410C>G
ENST00000695992.1:c.479-11C>G	ENSP00000512315.1:n.479-11C>G
ENST00000695993.1:c.479-11C>G	ENSP00000512316.1:n.479-11C>G
ENST00000695994.1:c.479-11C>G	ENSP00000512317.1:n.479-11C>G
ENST00000695995.1:c.217-1262C>G	ENSP00000512318.1:n.217-1262C>G
ENST00000695996.1:n.550-11C>G
ENST00000695997.1:n.434-11C>G
ENST00000696003.1:n.571-11C>G
ENST00000696004.1:n.571-11C>G
ENST00000696006.1:c.479-11C>G	ENSP00000512325.1:n.479-11C>G
ENST00000696007.1:c.330-11C>G	ENSP00000512326.1:n.330-11C>G
ENST00000696008.1:n.1623C>G
ENST00000696009.1:n.1818C>G
ENST00000696017.1:c.476-11C>G	ENSP00000512333.1:n.476-11C>G
ENST00000696034.1:c.479-11C>G	ENSP00000512343.1:n.479-11C>G
ENST00000696035.1:n.589-11C>G
ENST00000696036.1:n.1169-11C>G
ENST00000696037.1:n.2156-11C>G
ENST00000696038.1:c.*225-11C>G	ENSP00000512344.1:n.*225-11C>G
ENST00000696039.1:n.767-11C>G
ENST00000696058.1:c.479-11C>G	ENSP00000512361.1:n.479-11C>G
ENST00000696059.1:c.*424-11C>G	ENSP00000512362.1:n.*424-11C>G
ENST00000696060.1:c.479-11C>G	ENSP00000512363.1:n.479-11C>G
ENST00000696061.1:c.476-11C>G	ENSP00000512364.1:n.476-11C>G
ENST00000696062.1:c.542-11C>G	ENSP00000512365.1:n.542-11C>G
ENST00000696063.1:c.554-11C>G	ENSP00000512366.1:n.554-11C>G
ENST00000696064.1:c.326-11C>G	ENSP00000512367.1:n.326-11C>G
ENST00000696065.1:c.66-1410C>G	ENSP00000512368.1:n.66-1410C>G
ENST00000696074.1:n.84C>G
ENST00000696075.1:c.*449-11C>G	ENSP00000512374.1:n.*449-11C>G
ENST00000696076.1:c.479-11C>G	ENSP00000512375.1:n.479-11C>G
ENST00000696077.1:c.476-11C>G	ENSP00000512376.1:n.476-11C>G
ENST00000696078.1:c.479-11C>G	ENSP00000512377.1:n.479-11C>G
ENST00000696079.1:c.479-11C>G	ENSP00000512378.1:n.479-11C>G
ENST00000696080.1:c.479-11C>G	ENSP00000512379.1:n.479-11C>G
ENST00000696081.1:n.587C>G
ENST00000696082.1:c.557-11C>G	ENSP00000512380.1:n.557-11C>G
ENST00000696083.1:n.1349C>G
ENST00000696084.1:n.580-11C>G
ENST00000696104.1:c.363-1410C>G	ENSP00000512399.1:n.363-1410C>G
ENST00000696105.1:c.*20-11C>G	ENSP00000512400.1:n.*20-11C>G
ENST00000372874.9:c.479-11C>G MANE Select	ENSP00000361965.4:n.479-11C>G
ENST00000372874.8:c.479-11C>G	ENSP00000361965.4:n.479-11C>G
ENST00000464097.5:n.153-11C>G
ENST00000492931.5:n.563-11C>G
ENST00000536532.5:c.479-11C>G	ENSP00000440946.1:n.479-11C>G
ENST00000537820.1:c.479-11C>G	ENSP00000441818.1:n.479-11C>G
ENST00000539235.5:c.219-1262C>G	ENSP00000446464.1:n.219-1262C>G
NM_000022.2:c.479-11C>G , LRG_16t1:c.479-11C>G	NP_000013.2:n.479-11C>G
XM_005260236.2:c.479-11C>G	XP_005260293.1:n.479-11C>G
XM_011528478.1:c.74-11C>G	XP_011526780.1:n.74-11C>G
XM_011528479.1:c.74-11C>G	XP_011526781.1:n.74-11C>G
XR_244129.1:n.533-11C>G
NM_000022.3:c.479-11C>G	NP_000013.2:n.479-11C>G
NM_001322050.1:c.74-11C>G	NP_001308979.1:n.74-11C>G
NM_001322051.1:c.479-11C>G	NP_001308980.1:n.479-11C>G
NR_136160.1:n.630-11C>G
NM_000022.4:c.479-11C>G MANE Select	NP_000013.2:n.479-11C>G
NM_001322050.2:c.74-11C>G	NP_001308979.1:n.74-11C>G
NM_001322051.2:c.479-11C>G	NP_001308980.1:n.479-11C>G
NR_136160.2:n.571-11C>G