Canonical Allele Identifier: CA2652991044

Gene: ADA

Linked Data

• gnomAD v4: 20-44625531-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625531A>G , CM000682.2:g.44625531A>G	GRCh38
NC_000020.10:g.43254172A>G , CM000682.1:g.43254172A>G	GRCh37
NC_000020.9:g.42687586A>G	NCBI36
NG_007385.1:g.31205T>C , LRG_16:g.31205T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.569+38T>C
ENST00000536076.2:c.325+38T>C	ENSP00000512234.1:n.325+38T>C
ENST00000536532.6:c.478+38T>C	ENSP00000440946.1:n.478+38T>C
ENST00000537820.2:c.478+38T>C	ENSP00000441818.1:n.478+38T>C
ENST00000539235.6:c.219-2453T>C	ENSP00000446464.1:n.219-2453T>C
ENST00000695889.1:c.219-2601T>C	ENSP00000512240.1:n.219-2601T>C
ENST00000695890.1:n.2281+38T>C
ENST00000695891.1:c.219-2601T>C	ENSP00000512241.1:n.219-2601T>C
ENST00000695927.1:c.556+38T>C	ENSP00000512270.1:n.556+38T>C
ENST00000695949.1:c.475+38T>C	ENSP00000512281.1:n.475+38T>C
ENST00000695957.1:c.362+925T>C	ENSP00000512286.1:n.362+925T>C
ENST00000695991.1:c.217-2601T>C	ENSP00000512314.1:n.217-2601T>C
ENST00000695992.1:c.478+38T>C	ENSP00000512315.1:n.478+38T>C
ENST00000695993.1:c.478+38T>C	ENSP00000512316.1:n.478+38T>C
ENST00000695994.1:c.478+38T>C	ENSP00000512317.1:n.478+38T>C
ENST00000695995.1:c.217-2453T>C	ENSP00000512318.1:n.217-2453T>C
ENST00000695996.1:n.549+38T>C
ENST00000695997.1:n.433+925T>C
ENST00000696003.1:n.570+38T>C
ENST00000696004.1:n.570+38T>C
ENST00000696006.1:c.478+38T>C	ENSP00000512325.1:n.478+38T>C
ENST00000696007.1:c.329+925T>C	ENSP00000512326.1:n.329+925T>C
ENST00000696008.1:n.432T>C
ENST00000696009.1:n.627T>C
ENST00000696017.1:c.475+38T>C	ENSP00000512333.1:n.475+38T>C
ENST00000696034.1:c.478+38T>C	ENSP00000512343.1:n.478+38T>C
ENST00000696035.1:n.588+38T>C
ENST00000696036.1:n.1168+38T>C
ENST00000696037.1:n.2155+38T>C
ENST00000696038.1:c.*224+38T>C	ENSP00000512344.1:n.*224+38T>C
ENST00000696039.1:n.766+38T>C
ENST00000696058.1:c.478+38T>C	ENSP00000512361.1:n.478+38T>C
ENST00000696059.1:c.*423+38T>C	ENSP00000512362.1:n.*423+38T>C
ENST00000696060.1:c.478+38T>C	ENSP00000512363.1:n.478+38T>C
ENST00000696061.1:c.475+38T>C	ENSP00000512364.1:n.475+38T>C
ENST00000696062.1:c.541+38T>C	ENSP00000512365.1:n.541+38T>C
ENST00000696063.1:c.553+38T>C	ENSP00000512366.1:n.553+38T>C
ENST00000696064.1:c.325+38T>C	ENSP00000512367.1:n.325+38T>C
ENST00000696065.1:c.66-2601T>C	ENSP00000512368.1:n.66-2601T>C
ENST00000696075.1:c.*448+38T>C	ENSP00000512374.1:n.*448+38T>C
ENST00000696076.1:c.478+38T>C	ENSP00000512375.1:n.478+38T>C
ENST00000696077.1:c.475+38T>C	ENSP00000512376.1:n.475+38T>C
ENST00000696078.1:c.478+38T>C	ENSP00000512377.1:n.478+38T>C
ENST00000696079.1:c.478+38T>C	ENSP00000512378.1:n.478+38T>C
ENST00000696080.1:c.478+38T>C	ENSP00000512379.1:n.478+38T>C
ENST00000696082.1:c.556+38T>C	ENSP00000512380.1:n.556+38T>C
ENST00000696083.1:n.158T>C
ENST00000696084.1:n.579+38T>C
ENST00000696104.1:c.362+925T>C	ENSP00000512399.1:n.362+925T>C
ENST00000696105.1:c.478+38T>C	ENSP00000512400.1:n.478+38T>C
ENST00000372874.9:c.478+38T>C MANE Select	ENSP00000361965.4:n.478+38T>C
ENST00000372874.8:c.478+38T>C	ENSP00000361965.4:n.478+38T>C
ENST00000464097.5:n.152+38T>C
ENST00000492931.5:n.562+38T>C
ENST00000536532.5:c.478+38T>C	ENSP00000440946.1:n.478+38T>C
ENST00000537820.1:c.478+38T>C	ENSP00000441818.1:n.478+38T>C
ENST00000539235.5:c.219-2453T>C	ENSP00000446464.1:n.219-2453T>C
NM_000022.2:c.478+38T>C , LRG_16t1:c.478+38T>C	NP_000013.2:n.478+38T>C
XM_005260236.2:c.478+38T>C	XP_005260293.1:n.478+38T>C
XM_011528478.1:c.73+925T>C	XP_011526780.1:n.73+925T>C
XM_011528479.1:c.73+925T>C	XP_011526781.1:n.73+925T>C
XR_244129.1:n.532+38T>C
NM_000022.3:c.478+38T>C	NP_000013.2:n.478+38T>C
NM_001322050.1:c.73+925T>C	NP_001308979.1:n.73+925T>C
NM_001322051.1:c.478+38T>C	NP_001308980.1:n.478+38T>C
NR_136160.1:n.629+38T>C
NM_000022.4:c.478+38T>C MANE Select	NP_000013.2:n.478+38T>C
NM_001322050.2:c.73+925T>C	NP_001308979.1:n.73+925T>C
NM_001322051.2:c.478+38T>C	NP_001308980.1:n.478+38T>C
NR_136160.2:n.570+38T>C