Canonical Allele Identifier: CA358594
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs267606635

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626502G>C , CM000682.2:g.44626502G>C GRCh38
NC_000020.10:g.43255143G>C , CM000682.1:g.43255143G>C GRCh37
NC_000020.9:g.42688557G>C NCBI36
NG_007385.1:g.30234C>G , LRG_16:g.30234C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.407C>G
ENST00000536076.2:c.163C>G ENSP00000512234.1:p.Leu55Val
ENST00000536532.6:c.316C>G ENSP00000440946.1:p.Leu106Val
ENST00000537820.2:c.316C>G ENSP00000441818.1:p.Leu106Val
ENST00000539235.6:c.218+2545C>G ENSP00000446464.1:n.218+2545C>G
ENST00000695889.1:c.218+2545C>G ENSP00000512240.1:n.218+2545C>G
ENST00000695890.1:n.2119C>G
ENST00000695891.1:c.218+2545C>G ENSP00000512241.1:n.218+2545C>G
ENST00000695927.1:c.394C>G ENSP00000512270.1:p.Leu132Val
ENST00000695949.1:c.313C>G ENSP00000512281.1:p.Leu105Val
ENST00000695957.1:c.316C>G ENSP00000512286.1:p.Leu106Val
ENST00000695991.1:c.216+2547C>G ENSP00000512314.1:n.216+2547C>G
ENST00000695992.1:c.316C>G ENSP00000512315.1:p.Leu106Val
ENST00000695993.1:c.316C>G ENSP00000512316.1:p.Leu106Val
ENST00000695994.1:c.316C>G ENSP00000512317.1:p.Leu106Val
ENST00000695995.1:c.216+2547C>G ENSP00000512318.1:n.216+2547C>G
ENST00000695996.1:n.387C>G
ENST00000695997.1:n.387C>G
ENST00000696003.1:n.408C>G
ENST00000696004.1:n.408C>G
ENST00000696006.1:c.316C>G ENSP00000512325.1:p.Leu106Val
ENST00000696007.1:c.283C>G ENSP00000512326.1:p.Leu95Val
ENST00000696009.1:n.427C>G
ENST00000696017.1:c.313C>G ENSP00000512333.1:p.Leu105Val
ENST00000696034.1:c.316C>G ENSP00000512343.1:p.Leu106Val
ENST00000696035.1:n.426C>G
ENST00000696036.1:n.1006C>G
ENST00000696037.1:n.1993C>G
ENST00000696038.1:c.*62C>G ENSP00000512344.1:n.*62C>G
ENST00000696039.1:n.604C>G
ENST00000696058.1:c.316C>G ENSP00000512361.1:p.Leu106Val
ENST00000696059.1:c.*261C>G ENSP00000512362.1:n.*261C>G
ENST00000696060.1:c.316C>G ENSP00000512363.1:p.Leu106Val
ENST00000696061.1:c.313C>G ENSP00000512364.1:p.Leu105Val
ENST00000696062.1:c.379C>G ENSP00000512365.1:p.Leu127Val
ENST00000696063.1:c.391C>G ENSP00000512366.1:p.Leu131Val
ENST00000696064.1:c.163C>G ENSP00000512367.1:p.Leu55Val
ENST00000696065.1:c.65+2545C>G ENSP00000512368.1:n.65+2545C>G
ENST00000696075.1:c.*286C>G ENSP00000512374.1:n.*286C>G
ENST00000696076.1:c.316C>G ENSP00000512375.1:p.Leu106Val
ENST00000696077.1:c.313C>G ENSP00000512376.1:p.Leu105Val
ENST00000696078.1:c.316C>G ENSP00000512377.1:p.Leu106Val
ENST00000696079.1:c.316C>G ENSP00000512378.1:p.Leu106Val
ENST00000696080.1:c.316C>G ENSP00000512379.1:p.Leu106Val
ENST00000696082.1:c.394C>G ENSP00000512380.1:p.Leu132Val
ENST00000696084.1:n.417C>G
ENST00000696104.1:c.316C>G ENSP00000512399.1:p.Leu106Val
ENST00000696105.1:c.316C>G ENSP00000512400.1:p.Leu106Val
ENST00000372874.9:c.316C>G MANE Select ENSP00000361965.4:p.Leu106Val
ENST00000372874.8:c.316C>G ENSP00000361965.4:p.Leu106Val
ENST00000492931.5:n.400C>G
ENST00000536532.5:c.316C>G ENSP00000440946.1:p.Leu106Val
ENST00000537820.1:c.316C>G ENSP00000441818.1:p.Leu106Val
ENST00000539235.5:c.218+2545C>G ENSP00000446464.1:n.218+2545C>G
ENST00000545776.5:n.370C>G
NM_000022.2:c.316C>G , LRG_16t1:c.316C>G NP_000013.2:p.Leu106Val
XM_005260236.2:c.316C>G XP_005260293.1:p.Leu106Val
XM_011528478.1:c.27C>G XP_011526780.1:p.Thr9=
XM_011528479.1:c.27C>G XP_011526781.1:p.Thr9=
XR_244129.1:n.370C>G
NM_000022.3:c.316C>G NP_000013.2:p.Leu106Val
NM_001322050.1:c.27C>G NP_001308979.1:p.Thr9=
NM_001322051.1:c.316C>G NP_001308980.1:p.Leu106Val
NR_136160.1:n.467C>G
NM_000022.4:c.316C>G MANE Select NP_000013.2:p.Leu106Val
NM_001322050.2:c.27C>G NP_001308979.1:p.Thr9=
NM_001322051.2:c.316C>G NP_001308980.1:p.Leu106Val
NR_136160.2:n.408C>G