Canonical Allele Identifier: CA510593737
Gene: ADA HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.43252918C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624277C>G , CM000682.2:g.44624277C>G GRCh38
NC_000020.10:g.43252918C>G , CM000682.1:g.43252918C>G GRCh37
NC_000020.9:g.42686332C>G NCBI36
NG_007385.1:g.32459G>C , LRG_16:g.32459G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.622G>C
ENST00000536076.2:c.378G>C ENSP00000512234.1:p.Val126=
ENST00000536532.6:c.531G>C ENSP00000440946.1:p.Val177=
ENST00000537820.2:c.531G>C ENSP00000441818.1:p.Val177=
ENST00000539235.6:c.219-1199G>C ENSP00000446464.1:n.219-1199G>C
ENST00000695889.1:c.219-1347G>C ENSP00000512240.1:n.219-1347G>C
ENST00000695890.1:n.2334G>C
ENST00000695891.1:c.219-1347G>C ENSP00000512241.1:n.219-1347G>C
ENST00000695927.1:c.609G>C ENSP00000512270.1:p.Val203=
ENST00000695949.1:c.528G>C ENSP00000512281.1:p.Val176=
ENST00000695957.1:c.*22G>C ENSP00000512286.1:n.*22G>C
ENST00000695991.1:c.217-1347G>C ENSP00000512314.1:n.217-1347G>C
ENST00000695992.1:c.531G>C ENSP00000512315.1:p.Val177=
ENST00000695993.1:c.531G>C ENSP00000512316.1:p.Val177=
ENST00000695994.1:c.531G>C ENSP00000512317.1:p.Val177=
ENST00000695995.1:c.217-1199G>C ENSP00000512318.1:n.217-1199G>C
ENST00000695996.1:n.602G>C
ENST00000695997.1:n.486G>C
ENST00000696003.1:n.623G>C
ENST00000696004.1:n.623G>C
ENST00000696005.1:c.53G>C
ENST00000696006.1:c.531G>C ENSP00000512325.1:p.Val177=
ENST00000696007.1:c.382G>C ENSP00000512326.1:n.382G>C
ENST00000696008.1:n.1686G>C
ENST00000696009.1:n.1881G>C
ENST00000696017.1:c.528G>C ENSP00000512333.1:p.Val176=
ENST00000696034.1:c.531G>C ENSP00000512343.1:p.Val177=
ENST00000696035.1:n.641G>C
ENST00000696036.1:n.1221G>C
ENST00000696037.1:n.2208G>C
ENST00000696038.1:c.*277G>C ENSP00000512344.1:n.*277G>C
ENST00000696039.1:n.819G>C
ENST00000696058.1:c.531G>C ENSP00000512361.1:p.Val177=
ENST00000696059.1:c.*476G>C ENSP00000512362.1:n.*476G>C
ENST00000696060.1:c.531G>C ENSP00000512363.1:p.Val177=
ENST00000696061.1:c.528G>C ENSP00000512364.1:p.Val176=
ENST00000696062.1:c.594G>C ENSP00000512365.1:p.Val198=
ENST00000696063.1:c.606G>C ENSP00000512366.1:p.Val202=
ENST00000696064.1:c.378G>C ENSP00000512367.1:p.Val126=
ENST00000696065.1:c.66-1347G>C ENSP00000512368.1:n.66-1347G>C
ENST00000696074.1:n.147G>C
ENST00000696075.1:c.*501G>C ENSP00000512374.1:n.*501G>C
ENST00000696076.1:c.531G>C ENSP00000512375.1:p.Val177=
ENST00000696077.1:c.528G>C ENSP00000512376.1:p.Val176=
ENST00000696078.1:c.531G>C ENSP00000512377.1:p.Val177=
ENST00000696079.1:c.531G>C ENSP00000512378.1:p.Val177=
ENST00000696080.1:c.531G>C ENSP00000512379.1:p.Val177=
ENST00000696081.1:n.650G>C
ENST00000696082.1:c.609G>C ENSP00000512380.1:p.Val203=
ENST00000696083.1:n.1412G>C
ENST00000696084.1:n.632G>C
ENST00000696104.1:c.363-1347G>C ENSP00000512399.1:n.363-1347G>C
ENST00000696105.1:c.*72G>C ENSP00000512400.1:n.*72G>C
ENST00000372874.9:c.531G>C MANE Select ENSP00000361965.4:p.Val177=
ENST00000372874.8:c.531G>C ENSP00000361965.4:p.Val177=
ENST00000464097.5:n.205G>C
ENST00000492931.5:n.615G>C
ENST00000536532.5:c.531G>C ENSP00000440946.1:p.Val177=
ENST00000537820.1:c.531G>C ENSP00000441818.1:p.Val177=
ENST00000539235.5:c.219-1199G>C ENSP00000446464.1:n.219-1199G>C
NM_000022.2:c.531G>C , LRG_16t1:c.531G>C NP_000013.2:p.Val177=
XM_005260236.2:c.531G>C XP_005260293.1:p.Val177=
XM_011528478.1:c.126G>C XP_011526780.1:p.Val42=
XM_011528479.1:c.126G>C XP_011526781.1:p.Val42=
XR_244129.1:n.585G>C
NM_000022.3:c.531G>C NP_000013.2:p.Val177=
NM_001322050.1:c.126G>C NP_001308979.1:p.Val42=
NM_001322051.1:c.531G>C NP_001308980.1:p.Val177=
NR_136160.1:n.682G>C
NM_000022.4:c.531G>C MANE Select NP_000013.2:p.Val177=
NM_001322050.2:c.126G>C NP_001308979.1:p.Val42=
NM_001322051.2:c.531G>C NP_001308980.1:p.Val177=
NR_136160.2:n.623G>C