Canonical Allele Identifier: CA409121301

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43255115A>C (hg19) ; chr20:g.44626474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626474A>C , CM000682.2:g.44626474A>C	GRCh38
NC_000020.10:g.43255115A>C , CM000682.1:g.43255115A>C	GRCh37
NC_000020.9:g.42688529A>C	NCBI36
NG_007385.1:g.30262T>G , LRG_16:g.30262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.435T>G
ENST00000536076.2:c.191T>G	ENSP00000512234.1:p.Ile64Ser
ENST00000536532.6:c.344T>G	ENSP00000440946.1:p.Ile115Ser
ENST00000537820.2:c.344T>G	ENSP00000441818.1:p.Ile115Ser
ENST00000539235.6:c.218+2573T>G	ENSP00000446464.1:n.218+2573T>G
ENST00000695889.1:c.218+2573T>G	ENSP00000512240.1:n.218+2573T>G
ENST00000695890.1:n.2147T>G
ENST00000695891.1:c.218+2573T>G	ENSP00000512241.1:n.218+2573T>G
ENST00000695927.1:c.422T>G	ENSP00000512270.1:p.Ile141Ser
ENST00000695949.1:c.341T>G	ENSP00000512281.1:p.Ile114Ser
ENST00000695957.1:c.344T>G	ENSP00000512286.1:p.Ile115Ser
ENST00000695991.1:c.216+2575T>G	ENSP00000512314.1:n.216+2575T>G
ENST00000695992.1:c.344T>G	ENSP00000512315.1:p.Ile115Ser
ENST00000695993.1:c.344T>G	ENSP00000512316.1:p.Ile115Ser
ENST00000695994.1:c.344T>G	ENSP00000512317.1:p.Ile115Ser
ENST00000695995.1:c.216+2575T>G	ENSP00000512318.1:n.216+2575T>G
ENST00000695996.1:n.415T>G
ENST00000695997.1:n.415T>G
ENST00000696003.1:n.436T>G
ENST00000696004.1:n.436T>G
ENST00000696006.1:c.344T>G	ENSP00000512325.1:p.Ile115Ser
ENST00000696007.1:c.311T>G	ENSP00000512326.1:p.Ile104Ser
ENST00000696009.1:n.455T>G
ENST00000696017.1:c.341T>G	ENSP00000512333.1:p.Ile114Ser
ENST00000696034.1:c.344T>G	ENSP00000512343.1:p.Ile115Ser
ENST00000696035.1:n.454T>G
ENST00000696036.1:n.1034T>G
ENST00000696037.1:n.2021T>G
ENST00000696038.1:c.*90T>G	ENSP00000512344.1:n.*90T>G
ENST00000696039.1:n.632T>G
ENST00000696058.1:c.344T>G	ENSP00000512361.1:p.Ile115Ser
ENST00000696059.1:c.*289T>G	ENSP00000512362.1:n.*289T>G
ENST00000696060.1:c.344T>G	ENSP00000512363.1:p.Ile115Ser
ENST00000696061.1:c.341T>G	ENSP00000512364.1:p.Ile114Ser
ENST00000696062.1:c.407T>G	ENSP00000512365.1:p.Ile136Ser
ENST00000696063.1:c.419T>G	ENSP00000512366.1:p.Ile140Ser
ENST00000696064.1:c.191T>G	ENSP00000512367.1:p.Ile64Ser
ENST00000696065.1:c.65+2573T>G	ENSP00000512368.1:n.65+2573T>G
ENST00000696075.1:c.*314T>G	ENSP00000512374.1:n.*314T>G
ENST00000696076.1:c.344T>G	ENSP00000512375.1:p.Ile115Ser
ENST00000696077.1:c.341T>G	ENSP00000512376.1:p.Ile114Ser
ENST00000696078.1:c.344T>G	ENSP00000512377.1:p.Ile115Ser
ENST00000696079.1:c.344T>G	ENSP00000512378.1:p.Ile115Ser
ENST00000696080.1:c.344T>G	ENSP00000512379.1:p.Ile115Ser
ENST00000696082.1:c.422T>G	ENSP00000512380.1:p.Ile141Ser
ENST00000696084.1:n.445T>G
ENST00000696104.1:c.344T>G	ENSP00000512399.1:p.Ile115Ser
ENST00000696105.1:c.344T>G	ENSP00000512400.1:p.Ile115Ser
ENST00000372874.9:c.344T>G MANE Select	ENSP00000361965.4:p.Ile115Ser
ENST00000372874.8:c.344T>G	ENSP00000361965.4:p.Ile115Ser
ENST00000464097.5:n.18T>G
ENST00000492931.5:n.428T>G
ENST00000536532.5:c.344T>G	ENSP00000440946.1:p.Ile115Ser
ENST00000537820.1:c.344T>G	ENSP00000441818.1:p.Ile115Ser
ENST00000539235.5:c.218+2573T>G	ENSP00000446464.1:n.218+2573T>G
ENST00000545776.5:n.398T>G
NM_000022.2:c.344T>G , LRG_16t1:c.344T>G	NP_000013.2:p.Ile115Ser
XM_005260236.2:c.344T>G	XP_005260293.1:p.Ile115Ser
XM_011528478.1:c.55T>G	XP_011526780.1:p.Ser19Ala
XM_011528479.1:c.55T>G	XP_011526781.1:p.Ser19Ala
XR_244129.1:n.398T>G
NM_000022.3:c.344T>G	NP_000013.2:p.Ile115Ser
NM_001322050.1:c.55T>G	NP_001308979.1:p.Ser19Ala
NM_001322051.1:c.344T>G	NP_001308980.1:p.Ile115Ser
NR_136160.1:n.495T>G
NM_000022.4:c.344T>G MANE Select	NP_000013.2:p.Ile115Ser
NM_001322050.2:c.55T>G	NP_001308979.1:p.Ser19Ala
NM_001322051.2:c.344T>G	NP_001308980.1:p.Ile115Ser
NR_136160.2:n.436T>G