Canonical Allele Identifier: CA409121335

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43255131A>C (hg19) ; chr20:g.44626490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626490A>C , CM000682.2:g.44626490A>C	GRCh38
NC_000020.10:g.43255131A>C , CM000682.1:g.43255131A>C	GRCh37
NC_000020.9:g.42688545A>C	NCBI36
NG_007385.1:g.30246T>G , LRG_16:g.30246T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.419T>G
ENST00000536076.2:c.175T>G	ENSP00000512234.1:p.Ser59Ala
ENST00000536532.6:c.328T>G	ENSP00000440946.1:p.Ser110Ala
ENST00000537820.2:c.328T>G	ENSP00000441818.1:p.Ser110Ala
ENST00000539235.6:c.218+2557T>G	ENSP00000446464.1:n.218+2557T>G
ENST00000695889.1:c.218+2557T>G	ENSP00000512240.1:n.218+2557T>G
ENST00000695890.1:n.2131T>G
ENST00000695891.1:c.218+2557T>G	ENSP00000512241.1:n.218+2557T>G
ENST00000695927.1:c.406T>G	ENSP00000512270.1:p.Ser136Ala
ENST00000695949.1:c.325T>G	ENSP00000512281.1:p.Ser109Ala
ENST00000695957.1:c.328T>G	ENSP00000512286.1:p.Ser110Ala
ENST00000695991.1:c.216+2559T>G	ENSP00000512314.1:n.216+2559T>G
ENST00000695992.1:c.328T>G	ENSP00000512315.1:p.Ser110Ala
ENST00000695993.1:c.328T>G	ENSP00000512316.1:p.Ser110Ala
ENST00000695994.1:c.328T>G	ENSP00000512317.1:p.Ser110Ala
ENST00000695995.1:c.216+2559T>G	ENSP00000512318.1:n.216+2559T>G
ENST00000695996.1:n.399T>G
ENST00000695997.1:n.399T>G
ENST00000696003.1:n.420T>G
ENST00000696004.1:n.420T>G
ENST00000696006.1:c.328T>G	ENSP00000512325.1:p.Ser110Ala
ENST00000696007.1:c.295T>G	ENSP00000512326.1:p.Ser99Ala
ENST00000696009.1:n.439T>G
ENST00000696017.1:c.325T>G	ENSP00000512333.1:p.Ser109Ala
ENST00000696034.1:c.328T>G	ENSP00000512343.1:p.Ser110Ala
ENST00000696035.1:n.438T>G
ENST00000696036.1:n.1018T>G
ENST00000696037.1:n.2005T>G
ENST00000696038.1:c.*74T>G	ENSP00000512344.1:n.*74T>G
ENST00000696039.1:n.616T>G
ENST00000696058.1:c.328T>G	ENSP00000512361.1:p.Ser110Ala
ENST00000696059.1:c.*273T>G	ENSP00000512362.1:n.*273T>G
ENST00000696060.1:c.328T>G	ENSP00000512363.1:p.Ser110Ala
ENST00000696061.1:c.325T>G	ENSP00000512364.1:p.Ser109Ala
ENST00000696062.1:c.391T>G	ENSP00000512365.1:p.Ser131Ala
ENST00000696063.1:c.403T>G	ENSP00000512366.1:p.Ser135Ala
ENST00000696064.1:c.175T>G	ENSP00000512367.1:p.Ser59Ala
ENST00000696065.1:c.65+2557T>G	ENSP00000512368.1:n.65+2557T>G
ENST00000696075.1:c.*298T>G	ENSP00000512374.1:n.*298T>G
ENST00000696076.1:c.328T>G	ENSP00000512375.1:p.Ser110Ala
ENST00000696077.1:c.325T>G	ENSP00000512376.1:p.Ser109Ala
ENST00000696078.1:c.328T>G	ENSP00000512377.1:p.Ser110Ala
ENST00000696079.1:c.328T>G	ENSP00000512378.1:p.Ser110Ala
ENST00000696080.1:c.328T>G	ENSP00000512379.1:p.Ser110Ala
ENST00000696082.1:c.406T>G	ENSP00000512380.1:p.Ser136Ala
ENST00000696084.1:n.429T>G
ENST00000696104.1:c.328T>G	ENSP00000512399.1:p.Ser110Ala
ENST00000696105.1:c.328T>G	ENSP00000512400.1:p.Ser110Ala
ENST00000372874.9:c.328T>G MANE Select	ENSP00000361965.4:p.Ser110Ala
ENST00000372874.8:c.328T>G	ENSP00000361965.4:p.Ser110Ala
ENST00000464097.5:n.2T>G
ENST00000492931.5:n.412T>G
ENST00000536532.5:c.328T>G	ENSP00000440946.1:p.Ser110Ala
ENST00000537820.1:c.328T>G	ENSP00000441818.1:p.Ser110Ala
ENST00000539235.5:c.218+2557T>G	ENSP00000446464.1:n.218+2557T>G
ENST00000545776.5:n.382T>G
NM_000022.2:c.328T>G , LRG_16t1:c.328T>G	NP_000013.2:p.Ser110Ala
XM_005260236.2:c.328T>G	XP_005260293.1:p.Ser110Ala
XM_011528478.1:c.39T>G	XP_011526780.1:p.Thr13=
XM_011528479.1:c.39T>G	XP_011526781.1:p.Thr13=
XR_244129.1:n.382T>G
NM_000022.3:c.328T>G	NP_000013.2:p.Ser110Ala
NM_001322050.1:c.39T>G	NP_001308979.1:p.Thr13=
NM_001322051.1:c.328T>G	NP_001308980.1:p.Ser110Ala
NR_136160.1:n.479T>G
NM_000022.4:c.328T>G MANE Select	NP_000013.2:p.Ser110Ala
NM_001322050.2:c.39T>G	NP_001308979.1:p.Thr13=
NM_001322051.2:c.328T>G	NP_001308980.1:p.Ser110Ala
NR_136160.2:n.420T>G