Canonical Allele Identifier: CA409121289

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43255108C>A (hg19) ; chr20:g.44626467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626467C>A , CM000682.2:g.44626467C>A	GRCh38
NC_000020.10:g.43255108C>A , CM000682.1:g.43255108C>A	GRCh37
NC_000020.9:g.42688522C>A	NCBI36
NG_007385.1:g.30269G>T , LRG_16:g.30269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.442G>T
ENST00000536076.2:c.198G>T	ENSP00000512234.1:p.Trp66Cys
ENST00000536532.6:c.351G>T	ENSP00000440946.1:p.Trp117Cys
ENST00000537820.2:c.351G>T	ENSP00000441818.1:p.Trp117Cys
ENST00000539235.6:c.218+2580G>T	ENSP00000446464.1:n.218+2580G>T
ENST00000695889.1:c.218+2580G>T	ENSP00000512240.1:n.218+2580G>T
ENST00000695890.1:n.2154G>T
ENST00000695891.1:c.218+2580G>T	ENSP00000512241.1:n.218+2580G>T
ENST00000695927.1:c.429G>T	ENSP00000512270.1:p.Trp143Cys
ENST00000695949.1:c.348G>T	ENSP00000512281.1:p.Trp116Cys
ENST00000695957.1:c.351G>T	ENSP00000512286.1:p.Trp117Cys
ENST00000695991.1:c.216+2582G>T	ENSP00000512314.1:n.216+2582G>T
ENST00000695992.1:c.351G>T	ENSP00000512315.1:p.Trp117Cys
ENST00000695993.1:c.351G>T	ENSP00000512316.1:p.Trp117Cys
ENST00000695994.1:c.351G>T	ENSP00000512317.1:p.Trp117Cys
ENST00000695995.1:c.216+2582G>T	ENSP00000512318.1:n.216+2582G>T
ENST00000695996.1:n.422G>T
ENST00000695997.1:n.422G>T
ENST00000696003.1:n.443G>T
ENST00000696004.1:n.443G>T
ENST00000696006.1:c.351G>T	ENSP00000512325.1:p.Trp117Cys
ENST00000696007.1:c.318G>T	ENSP00000512326.1:p.Trp106Cys
ENST00000696009.1:n.462G>T
ENST00000696017.1:c.348G>T	ENSP00000512333.1:p.Trp116Cys
ENST00000696034.1:c.351G>T	ENSP00000512343.1:p.Trp117Cys
ENST00000696035.1:n.461G>T
ENST00000696036.1:n.1041G>T
ENST00000696037.1:n.2028G>T
ENST00000696038.1:c.*97G>T	ENSP00000512344.1:n.*97G>T
ENST00000696039.1:n.639G>T
ENST00000696058.1:c.351G>T	ENSP00000512361.1:p.Trp117Cys
ENST00000696059.1:c.*296G>T	ENSP00000512362.1:n.*296G>T
ENST00000696060.1:c.351G>T	ENSP00000512363.1:p.Trp117Cys
ENST00000696061.1:c.348G>T	ENSP00000512364.1:p.Trp116Cys
ENST00000696062.1:c.414G>T	ENSP00000512365.1:p.Trp138Cys
ENST00000696063.1:c.426G>T	ENSP00000512366.1:p.Trp142Cys
ENST00000696064.1:c.198G>T	ENSP00000512367.1:p.Trp66Cys
ENST00000696065.1:c.65+2580G>T	ENSP00000512368.1:n.65+2580G>T
ENST00000696075.1:c.*321G>T	ENSP00000512374.1:n.*321G>T
ENST00000696076.1:c.351G>T	ENSP00000512375.1:p.Trp117Cys
ENST00000696077.1:c.348G>T	ENSP00000512376.1:p.Trp116Cys
ENST00000696078.1:c.351G>T	ENSP00000512377.1:p.Trp117Cys
ENST00000696079.1:c.351G>T	ENSP00000512378.1:p.Trp117Cys
ENST00000696080.1:c.351G>T	ENSP00000512379.1:p.Trp117Cys
ENST00000696082.1:c.429G>T	ENSP00000512380.1:p.Trp143Cys
ENST00000696084.1:n.452G>T
ENST00000696104.1:c.351G>T	ENSP00000512399.1:p.Trp117Cys
ENST00000696105.1:c.351G>T	ENSP00000512400.1:p.Trp117Cys
ENST00000372874.9:c.351G>T MANE Select	ENSP00000361965.4:p.Trp117Cys
ENST00000372874.8:c.351G>T	ENSP00000361965.4:p.Trp117Cys
ENST00000464097.5:n.25G>T
ENST00000492931.5:n.435G>T
ENST00000536532.5:c.351G>T	ENSP00000440946.1:p.Trp117Cys
ENST00000537820.1:c.351G>T	ENSP00000441818.1:p.Trp117Cys
ENST00000539235.5:c.218+2580G>T	ENSP00000446464.1:n.218+2580G>T
ENST00000545776.5:n.405G>T
NM_000022.2:c.351G>T , LRG_16t1:c.351G>T	NP_000013.2:p.Trp117Cys
XM_005260236.2:c.351G>T	XP_005260293.1:p.Trp117Cys
XM_011528478.1:c.62G>T	XP_011526780.1:p.Gly21Val
XM_011528479.1:c.62G>T	XP_011526781.1:p.Gly21Val
XR_244129.1:n.405G>T
NM_000022.3:c.351G>T	NP_000013.2:p.Trp117Cys
NM_001322050.1:c.62G>T	NP_001308979.1:p.Gly21Val
NM_001322051.1:c.351G>T	NP_001308980.1:p.Trp117Cys
NR_136160.1:n.502G>T
NM_000022.4:c.351G>T MANE Select	NP_000013.2:p.Trp117Cys
NM_001322050.2:c.62G>T	NP_001308979.1:p.Gly21Val
NM_001322051.2:c.351G>T	NP_001308980.1:p.Trp117Cys
NR_136160.2:n.443G>T