Canonical Allele Identifier: CA2365857119
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625522G= , CM000682.2:g.44625522G= GRCh38
NC_000020.10:g.43254163G= , CM000682.1:g.43254163G= GRCh37
NC_000020.9:g.42687577G= NCBI36
NG_007385.1:g.31214C= , LRG_16:g.31214C=

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.569+47C=
ENST00000536076.2:c.325+47C= ENSP00000512234.1:n.325+47C=
ENST00000536532.6:c.478+47C= ENSP00000440946.1:n.478+47C=
ENST00000537820.2:c.478+47C= ENSP00000441818.1:n.478+47C=
ENST00000539235.6:c.219-2444C= ENSP00000446464.1:n.219-2444C=
ENST00000695889.1:c.219-2592C= ENSP00000512240.1:n.219-2592C=
ENST00000695890.1:n.2281+47C=
ENST00000695891.1:c.219-2592C= ENSP00000512241.1:n.219-2592C=
ENST00000695927.1:c.556+47C= ENSP00000512270.1:n.556+47C=
ENST00000695949.1:c.475+47C= ENSP00000512281.1:n.475+47C=
ENST00000695957.1:c.362+934C= ENSP00000512286.1:n.362+934C=
ENST00000695991.1:c.217-2592C= ENSP00000512314.1:n.217-2592C=
ENST00000695992.1:c.478+47C= ENSP00000512315.1:n.478+47C=
ENST00000695993.1:c.478+47C= ENSP00000512316.1:n.478+47C=
ENST00000695994.1:c.478+47C= ENSP00000512317.1:n.478+47C=
ENST00000695995.1:c.217-2444C= ENSP00000512318.1:n.217-2444C=
ENST00000695996.1:n.549+47C=
ENST00000695997.1:n.433+934C=
ENST00000696003.1:n.570+47C=
ENST00000696004.1:n.570+47C=
ENST00000696006.1:c.478+47C= ENSP00000512325.1:n.478+47C=
ENST00000696007.1:c.329+934C= ENSP00000512326.1:n.329+934C=
ENST00000696008.1:n.441C=
ENST00000696009.1:n.636C=
ENST00000696017.1:c.475+47C= ENSP00000512333.1:n.475+47C=
ENST00000696034.1:c.478+47C= ENSP00000512343.1:n.478+47C=
ENST00000696035.1:n.588+47C=
ENST00000696036.1:n.1168+47C=
ENST00000696037.1:n.2155+47C=
ENST00000696038.1:c.*224+47C= ENSP00000512344.1:n.*224+47C=
ENST00000696039.1:n.766+47C=
ENST00000696058.1:c.478+47C= ENSP00000512361.1:n.478+47C=
ENST00000696059.1:c.*423+47C= ENSP00000512362.1:n.*423+47C=
ENST00000696060.1:c.478+47C= ENSP00000512363.1:n.478+47C=
ENST00000696061.1:c.475+47C= ENSP00000512364.1:n.475+47C=
ENST00000696062.1:c.541+47C= ENSP00000512365.1:n.541+47C=
ENST00000696063.1:c.553+47C= ENSP00000512366.1:n.553+47C=
ENST00000696064.1:c.325+47C= ENSP00000512367.1:n.325+47C=
ENST00000696065.1:c.66-2592C= ENSP00000512368.1:n.66-2592C=
ENST00000696075.1:c.*448+47C= ENSP00000512374.1:n.*448+47C=
ENST00000696076.1:c.478+47C= ENSP00000512375.1:n.478+47C=
ENST00000696077.1:c.475+47C= ENSP00000512376.1:n.475+47C=
ENST00000696078.1:c.478+47C= ENSP00000512377.1:n.478+47C=
ENST00000696079.1:c.478+47C= ENSP00000512378.1:n.478+47C=
ENST00000696080.1:c.478+47C= ENSP00000512379.1:n.478+47C=
ENST00000696082.1:c.556+47C= ENSP00000512380.1:n.556+47C=
ENST00000696083.1:n.167C=
ENST00000696084.1:n.579+47C=
ENST00000696104.1:c.362+934C= ENSP00000512399.1:n.362+934C=
ENST00000696105.1:c.478+47C= ENSP00000512400.1:n.478+47C=
ENST00000372874.9:c.478+47C= MANE Select ENSP00000361965.4:n.478+47C=
ENST00000372874.8:c.478+47C= ENSP00000361965.4:n.478+47C=
ENST00000464097.5:n.152+47C=
ENST00000492931.5:n.562+47C=
ENST00000536532.5:c.478+47C= ENSP00000440946.1:n.478+47C=
ENST00000537820.1:c.478+47C= ENSP00000441818.1:n.478+47C=
ENST00000539235.5:c.219-2444C= ENSP00000446464.1:n.219-2444C=
NM_000022.2:c.478+47C= , LRG_16t1:c.478+47C= NP_000013.2:n.478+47C=
XM_005260236.2:c.478+47C= XP_005260293.1:n.478+47C=
XM_011528478.1:c.73+934C= XP_011526780.1:n.73+934C=
XM_011528479.1:c.73+934C= XP_011526781.1:n.73+934C=
XR_244129.1:n.532+47C=
NM_000022.3:c.478+47C= NP_000013.2:n.478+47C=
NM_001322050.1:c.73+934C= NP_001308979.1:n.73+934C=
NM_001322051.1:c.478+47C= NP_001308980.1:n.478+47C=
NR_136160.1:n.629+47C=
NM_000022.4:c.478+47C= MANE Select NP_000013.2:n.478+47C=
NM_001322050.2:c.73+934C= NP_001308979.1:n.73+934C=
NM_001322051.2:c.478+47C= NP_001308980.1:n.478+47C=
NR_136160.2:n.570+47C=