Canonical Allele Identifier: CA2365859492

Gene: ADA

Linked Data

• dbSNP Id: rs2065425287

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44630616C>T , CM000682.2:g.44630616C>T	GRCh38
NC_000020.10:g.43259257C>T , CM000682.1:g.43259257C>T	GRCh37
NC_000020.9:g.42692671C>T	NCBI36
NG_007385.1:g.26120G>A , LRG_16:g.26120G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.187-1447G>A
ENST00000536076.2:c.-58-1447G>A	ENSP00000512234.1:n.-58-1447G>A
ENST00000536532.6:c.96-1447G>A	ENSP00000440946.1:n.96-1447G>A
ENST00000537820.2:c.96-1447G>A	ENSP00000441818.1:n.96-1447G>A
ENST00000539235.6:c.96-1447G>A	ENSP00000446464.1:n.96-1447G>A
ENST00000695889.1:c.96-1447G>A	ENSP00000512240.1:n.96-1447G>A
ENST00000695891.1:c.96-1447G>A	ENSP00000512241.1:n.96-1447G>A
ENST00000695927.1:c.174-1447G>A	ENSP00000512270.1:n.174-1447G>A
ENST00000695949.1:c.96-1450G>A	ENSP00000512281.1:n.96-1450G>A
ENST00000695957.1:c.96-1447G>A	ENSP00000512286.1:n.96-1447G>A
ENST00000695991.1:c.96-1447G>A	ENSP00000512314.1:n.96-1447G>A
ENST00000695992.1:c.96-1447G>A	ENSP00000512315.1:n.96-1447G>A
ENST00000695993.1:c.96-1447G>A	ENSP00000512316.1:n.96-1447G>A
ENST00000695994.1:c.96-1447G>A	ENSP00000512317.1:n.96-1447G>A
ENST00000695995.1:c.96-1447G>A	ENSP00000512318.1:n.96-1447G>A
ENST00000695996.1:n.167-1447G>A
ENST00000695997.1:n.167-1447G>A
ENST00000696003.1:n.188-1447G>A
ENST00000696004.1:n.188-1447G>A
ENST00000696006.1:c.96-1447G>A	ENSP00000512325.1:n.96-1447G>A
ENST00000696007.1:c.63-1447G>A	ENSP00000512326.1:n.63-1447G>A
ENST00000696009.1:n.207-1447G>A
ENST00000696010.1:n.209-1447G>A
ENST00000696017.1:c.96-1450G>A	ENSP00000512333.1:n.96-1450G>A
ENST00000696034.1:c.96-1447G>A	ENSP00000512343.1:n.96-1447G>A
ENST00000696038.1:c.96-1447G>A	ENSP00000512344.1:n.96-1447G>A
ENST00000696039.1:n.384-1447G>A
ENST00000696058.1:c.96-1447G>A	ENSP00000512361.1:n.96-1447G>A
ENST00000696059.1:c.*41-1447G>A	ENSP00000512362.1:n.*41-1447G>A
ENST00000696060.1:c.96-1447G>A	ENSP00000512363.1:n.96-1447G>A
ENST00000696061.1:c.96-1450G>A	ENSP00000512364.1:n.96-1450G>A
ENST00000696062.1:c.159-1447G>A	ENSP00000512365.1:n.159-1447G>A
ENST00000696063.1:c.171-1447G>A	ENSP00000512366.1:n.171-1447G>A
ENST00000696064.1:c.-55-1450G>A	ENSP00000512367.1:n.-55-1450G>A
ENST00000696065.1:c.-58-1447G>A	ENSP00000512368.1:n.-58-1447G>A
ENST00000696075.1:c.*66-1447G>A	ENSP00000512374.1:n.*66-1447G>A
ENST00000696076.1:c.96-1447G>A	ENSP00000512375.1:n.96-1447G>A
ENST00000696077.1:c.96-1450G>A	ENSP00000512376.1:n.96-1450G>A
ENST00000696078.1:c.96-1447G>A	ENSP00000512377.1:n.96-1447G>A
ENST00000696079.1:c.96-1447G>A	ENSP00000512378.1:n.96-1447G>A
ENST00000696080.1:c.96-1447G>A	ENSP00000512379.1:n.96-1447G>A
ENST00000696082.1:c.174-1447G>A	ENSP00000512380.1:n.174-1447G>A
ENST00000696084.1:n.197-1447G>A
ENST00000696104.1:c.96-1447G>A	ENSP00000512399.1:n.96-1447G>A
ENST00000696105.1:c.96-1447G>A	ENSP00000512400.1:n.96-1447G>A
ENST00000372874.9:c.96-1447G>A MANE Select	ENSP00000361965.4:n.96-1447G>A
ENST00000372874.8:c.96-1447G>A	ENSP00000361965.4:n.96-1447G>A
ENST00000492931.5:n.180-1447G>A
ENST00000536076.1:n.276-1447G>A
ENST00000536532.5:c.96-1447G>A	ENSP00000440946.1:n.96-1447G>A
ENST00000537820.1:c.96-1447G>A	ENSP00000441818.1:n.96-1447G>A
ENST00000539235.5:c.96-1447G>A	ENSP00000446464.1:n.96-1447G>A
ENST00000545776.5:n.150-1447G>A
NM_000022.2:c.96-1447G>A , LRG_16t1:c.96-1447G>A	NP_000013.2:n.96-1447G>A
XM_005260236.2:c.96-1447G>A	XP_005260293.1:n.96-1447G>A
XM_011528478.1:c.-194-1447G>A	XP_011526780.1:n.-194-1447G>A
XM_011528479.1:c.-194-1447G>A	XP_011526781.1:n.-194-1447G>A
XR_244129.1:n.150-1447G>A
NM_000022.3:c.96-1447G>A	NP_000013.2:n.96-1447G>A
NM_001322050.1:c.-194-1447G>A	NP_001308979.1:n.-194-1447G>A
NM_001322051.1:c.96-1447G>A	NP_001308980.1:n.96-1447G>A
NR_136160.1:n.247-1447G>A
NM_000022.4:c.96-1447G>A MANE Select	NP_000013.2:n.96-1447G>A
NM_001322050.2:c.-194-1447G>A	NP_001308979.1:n.-194-1447G>A
NM_001322051.2:c.96-1447G>A	NP_001308980.1:n.96-1447G>A
NR_136160.2:n.188-1447G>A