Canonical Allele Identifier: CA266016
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 68265
ClinVar RCV Id: RCV000059107
dbSNP Id: rs121908719

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624279C>T , CM000682.2:g.44624279C>T GRCh38
NC_000020.10:g.43252920C>T , CM000682.1:g.43252920C>T GRCh37
NC_000020.9:g.42686334C>T NCBI36
NG_007385.1:g.32457G>A , LRG_16:g.32457G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.620G>A
ENST00000536076.2:c.376G>A ENSP00000512234.1:p.Val126Met
ENST00000536532.6:c.529G>A ENSP00000440946.1:p.Val177Met
ENST00000537820.2:c.529G>A ENSP00000441818.1:p.Val177Met
ENST00000539235.6:c.219-1201G>A ENSP00000446464.1:n.219-1201G>A
ENST00000695889.1:c.219-1349G>A ENSP00000512240.1:n.219-1349G>A
ENST00000695890.1:n.2332G>A
ENST00000695891.1:c.219-1349G>A ENSP00000512241.1:n.219-1349G>A
ENST00000695927.1:c.607G>A ENSP00000512270.1:p.Val203Met
ENST00000695949.1:c.526G>A ENSP00000512281.1:p.Val176Met
ENST00000695957.1:c.*20G>A ENSP00000512286.1:n.*20G>A
ENST00000695991.1:c.217-1349G>A ENSP00000512314.1:n.217-1349G>A
ENST00000695992.1:c.529G>A ENSP00000512315.1:p.Val177Met
ENST00000695993.1:c.529G>A ENSP00000512316.1:p.Val177Met
ENST00000695994.1:c.529G>A ENSP00000512317.1:p.Val177Met
ENST00000695995.1:c.217-1201G>A ENSP00000512318.1:n.217-1201G>A
ENST00000695996.1:n.600G>A
ENST00000695997.1:n.484G>A
ENST00000696003.1:n.621G>A
ENST00000696004.1:n.621G>A
ENST00000696005.1:c.51G>A
ENST00000696006.1:c.529G>A ENSP00000512325.1:p.Val177Met
ENST00000696007.1:c.380G>A ENSP00000512326.1:n.380G>A
ENST00000696008.1:n.1684G>A
ENST00000696009.1:n.1879G>A
ENST00000696017.1:c.526G>A ENSP00000512333.1:p.Val176Met
ENST00000696034.1:c.529G>A ENSP00000512343.1:p.Val177Met
ENST00000696035.1:n.639G>A
ENST00000696036.1:n.1219G>A
ENST00000696037.1:n.2206G>A
ENST00000696038.1:c.*275G>A ENSP00000512344.1:n.*275G>A
ENST00000696039.1:n.817G>A
ENST00000696058.1:c.529G>A ENSP00000512361.1:p.Val177Met
ENST00000696059.1:c.*474G>A ENSP00000512362.1:n.*474G>A
ENST00000696060.1:c.529G>A ENSP00000512363.1:p.Val177Met
ENST00000696061.1:c.526G>A ENSP00000512364.1:p.Val176Met
ENST00000696062.1:c.592G>A ENSP00000512365.1:p.Val198Met
ENST00000696063.1:c.604G>A ENSP00000512366.1:p.Val202Met
ENST00000696064.1:c.376G>A ENSP00000512367.1:p.Val126Met
ENST00000696065.1:c.66-1349G>A ENSP00000512368.1:n.66-1349G>A
ENST00000696074.1:n.145G>A
ENST00000696075.1:c.*499G>A ENSP00000512374.1:n.*499G>A
ENST00000696076.1:c.529G>A ENSP00000512375.1:p.Val177Met
ENST00000696077.1:c.526G>A ENSP00000512376.1:p.Val176Met
ENST00000696078.1:c.529G>A ENSP00000512377.1:p.Val177Met
ENST00000696079.1:c.529G>A ENSP00000512378.1:p.Val177Met
ENST00000696080.1:c.529G>A ENSP00000512379.1:p.Val177Met
ENST00000696081.1:n.648G>A
ENST00000696082.1:c.607G>A ENSP00000512380.1:p.Val203Met
ENST00000696083.1:n.1410G>A
ENST00000696084.1:n.630G>A
ENST00000696104.1:c.363-1349G>A ENSP00000512399.1:n.363-1349G>A
ENST00000696105.1:c.*70G>A ENSP00000512400.1:n.*70G>A
ENST00000372874.9:c.529G>A MANE Select ENSP00000361965.4:p.Val177Met
ENST00000372874.8:c.529G>A ENSP00000361965.4:p.Val177Met
ENST00000464097.5:n.203G>A
ENST00000492931.5:n.613G>A
ENST00000536532.5:c.529G>A ENSP00000440946.1:p.Val177Met
ENST00000537820.1:c.529G>A ENSP00000441818.1:p.Val177Met
ENST00000539235.5:c.219-1201G>A ENSP00000446464.1:n.219-1201G>A
NM_000022.2:c.529G>A , LRG_16t1:c.529G>A NP_000013.2:p.Val177Met
XM_005260236.2:c.529G>A XP_005260293.1:p.Val177Met
XM_011528478.1:c.124G>A XP_011526780.1:p.Val42Met
XM_011528479.1:c.124G>A XP_011526781.1:p.Val42Met
XR_244129.1:n.583G>A
NM_000022.3:c.529G>A NP_000013.2:p.Val177Met
NM_001322050.1:c.124G>A NP_001308979.1:p.Val42Met
NM_001322051.1:c.529G>A NP_001308980.1:p.Val177Met
NR_136160.1:n.680G>A
NM_000022.4:c.529G>A MANE Select NP_000013.2:p.Val177Met
NM_001322050.2:c.124G>A NP_001308979.1:p.Val42Met
NM_001322051.2:c.529G>A NP_001308980.1:p.Val177Met
NR_136160.2:n.621G>A