Canonical Allele Identifier: CA409121319

Gene: ADA

Linked Data

• dbSNP Id: rs1275500780
• gnomAD v2: 20-43255122-C-T
• gnomAD v4: 20-44626481-C-T
• MyVariant Identifiers: chr20:g.43255122C>T (hg19) ; chr20:g.44626481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626481C>T , CM000682.2:g.44626481C>T	GRCh38
NC_000020.10:g.43255122C>T , CM000682.1:g.43255122C>T	GRCh37
NC_000020.9:g.42688536C>T	NCBI36
NG_007385.1:g.30255G>A , LRG_16:g.30255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.428G>A
ENST00000536076.2:c.184G>A	ENSP00000512234.1:p.Glu62Lys
ENST00000536532.6:c.337G>A	ENSP00000440946.1:p.Glu113Lys
ENST00000537820.2:c.337G>A	ENSP00000441818.1:p.Glu113Lys
ENST00000539235.6:c.218+2566G>A	ENSP00000446464.1:n.218+2566G>A
ENST00000695889.1:c.218+2566G>A	ENSP00000512240.1:n.218+2566G>A
ENST00000695890.1:n.2140G>A
ENST00000695891.1:c.218+2566G>A	ENSP00000512241.1:n.218+2566G>A
ENST00000695927.1:c.415G>A	ENSP00000512270.1:p.Glu139Lys
ENST00000695949.1:c.334G>A	ENSP00000512281.1:p.Glu112Lys
ENST00000695957.1:c.337G>A	ENSP00000512286.1:p.Glu113Lys
ENST00000695991.1:c.216+2568G>A	ENSP00000512314.1:n.216+2568G>A
ENST00000695992.1:c.337G>A	ENSP00000512315.1:p.Glu113Lys
ENST00000695993.1:c.337G>A	ENSP00000512316.1:p.Glu113Lys
ENST00000695994.1:c.337G>A	ENSP00000512317.1:p.Glu113Lys
ENST00000695995.1:c.216+2568G>A	ENSP00000512318.1:n.216+2568G>A
ENST00000695996.1:n.408G>A
ENST00000695997.1:n.408G>A
ENST00000696003.1:n.429G>A
ENST00000696004.1:n.429G>A
ENST00000696006.1:c.337G>A	ENSP00000512325.1:p.Glu113Lys
ENST00000696007.1:c.304G>A	ENSP00000512326.1:p.Glu102Lys
ENST00000696009.1:n.448G>A
ENST00000696017.1:c.334G>A	ENSP00000512333.1:p.Glu112Lys
ENST00000696034.1:c.337G>A	ENSP00000512343.1:p.Glu113Lys
ENST00000696035.1:n.447G>A
ENST00000696036.1:n.1027G>A
ENST00000696037.1:n.2014G>A
ENST00000696038.1:c.*83G>A	ENSP00000512344.1:n.*83G>A
ENST00000696039.1:n.625G>A
ENST00000696058.1:c.337G>A	ENSP00000512361.1:p.Glu113Lys
ENST00000696059.1:c.*282G>A	ENSP00000512362.1:n.*282G>A
ENST00000696060.1:c.337G>A	ENSP00000512363.1:p.Glu113Lys
ENST00000696061.1:c.334G>A	ENSP00000512364.1:p.Glu112Lys
ENST00000696062.1:c.400G>A	ENSP00000512365.1:p.Glu134Lys
ENST00000696063.1:c.412G>A	ENSP00000512366.1:p.Glu138Lys
ENST00000696064.1:c.184G>A	ENSP00000512367.1:p.Glu62Lys
ENST00000696065.1:c.65+2566G>A	ENSP00000512368.1:n.65+2566G>A
ENST00000696075.1:c.*307G>A	ENSP00000512374.1:n.*307G>A
ENST00000696076.1:c.337G>A	ENSP00000512375.1:p.Glu113Lys
ENST00000696077.1:c.334G>A	ENSP00000512376.1:p.Glu112Lys
ENST00000696078.1:c.337G>A	ENSP00000512377.1:p.Glu113Lys
ENST00000696079.1:c.337G>A	ENSP00000512378.1:p.Glu113Lys
ENST00000696080.1:c.337G>A	ENSP00000512379.1:p.Glu113Lys
ENST00000696082.1:c.415G>A	ENSP00000512380.1:p.Glu139Lys
ENST00000696084.1:n.438G>A
ENST00000696104.1:c.337G>A	ENSP00000512399.1:p.Glu113Lys
ENST00000696105.1:c.337G>A	ENSP00000512400.1:p.Glu113Lys
ENST00000372874.9:c.337G>A MANE Select	ENSP00000361965.4:p.Glu113Lys
ENST00000372874.8:c.337G>A	ENSP00000361965.4:p.Glu113Lys
ENST00000464097.5:n.11G>A
ENST00000492931.5:n.421G>A
ENST00000536532.5:c.337G>A	ENSP00000440946.1:p.Glu113Lys
ENST00000537820.1:c.337G>A	ENSP00000441818.1:p.Glu113Lys
ENST00000539235.5:c.218+2566G>A	ENSP00000446464.1:n.218+2566G>A
ENST00000545776.5:n.391G>A
NM_000022.2:c.337G>A , LRG_16t1:c.337G>A	NP_000013.2:p.Glu113Lys
XM_005260236.2:c.337G>A	XP_005260293.1:p.Glu113Lys
XM_011528478.1:c.48G>A	XP_011526780.1:p.Trp16Ter
XM_011528479.1:c.48G>A	XP_011526781.1:p.Trp16Ter
XR_244129.1:n.391G>A
NM_000022.3:c.337G>A	NP_000013.2:p.Glu113Lys
NM_001322050.1:c.48G>A	NP_001308979.1:p.Trp16Ter
NM_001322051.1:c.337G>A	NP_001308980.1:p.Glu113Lys
NR_136160.1:n.488G>A
NM_000022.4:c.337G>A MANE Select	NP_000013.2:p.Glu113Lys
NM_001322050.2:c.48G>A	NP_001308979.1:p.Trp16Ter
NM_001322051.2:c.337G>A	NP_001308980.1:p.Glu113Lys
NR_136160.2:n.429G>A