Canonical Allele Identifier: CA409120300

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251541C>T (hg19) ; chr20:g.44622900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622900C>T , CM000682.2:g.44622900C>T	GRCh38
NC_000020.10:g.43251541C>T , CM000682.1:g.43251541C>T	GRCh37
NC_000020.9:g.42684955C>T	NCBI36
NG_007385.1:g.33836G>A , LRG_16:g.33836G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.876G>A (ADA)
ENST00000536076.2:c.556G>A (ADA)	ENSP00000512234.1:p.Gly186Arg
ENST00000536532.6:c.709G>A (ADA)	ENSP00000440946.1:p.Gly237Arg
ENST00000537820.2:c.637G>A (ADA)	ENSP00000441818.1:p.Gly213Arg
ENST00000539235.6:c.*93G>A (ADA)	ENSP00000446464.1:n.*93G>A
ENST00000695889.1:c.249G>A (ADA)	ENSP00000512240.1:p.Trp83Ter
ENST00000695890.1:n.2588G>A (ADA)
ENST00000695891.1:c.249G>A (ADA)	ENSP00000512241.1:p.Trp83Ter
ENST00000695927.1:c.787G>A (ADA)	ENSP00000512270.1:p.Gly263Arg
ENST00000695949.1:c.634G>A (ADA)	ENSP00000512281.1:p.Gly212Arg
ENST00000695957.1:c.*200G>A (ADA)	ENSP00000512286.1:n.*200G>A
ENST00000695991.1:c.247G>A (ADA)	ENSP00000512314.1:p.Gly83Arg
ENST00000695992.1:c.709G>A (ADA)	ENSP00000512315.1:p.Gly237Arg
ENST00000695993.1:c.709G>A (ADA)	ENSP00000512316.1:p.Gly237Arg
ENST00000695994.1:c.682G>A (ADA)	ENSP00000512317.1:p.Gly228Arg
ENST00000695995.1:c.319G>A (ADA)	ENSP00000512318.1:p.Gly107Arg
ENST00000695996.1:n.856G>A (ADA)
ENST00000696003.1:n.877G>A (ADA)
ENST00000696004.1:n.877G>A (ADA)
ENST00000696005.1:c.159G>A (ADA)
ENST00000696006.1:c.637G>A (ADA)	ENSP00000512325.1:p.Gly213Arg
ENST00000696007.1:c.636G>A (ADA)	ENSP00000512326.1:n.636G>A
ENST00000696008.1:n.3063G>A (ADA)
ENST00000696017.1:c.706G>A (ADA)	ENSP00000512333.1:p.Gly236Arg
ENST00000696034.1:c.709G>A (ADA)	ENSP00000512343.1:p.Gly237Arg
ENST00000696035.1:n.895G>A (ADA)
ENST00000696036.1:n.1475G>A (ADA)
ENST00000696037.1:n.2386G>A (ADA)
ENST00000696038.1:c.*531G>A (ADA)	ENSP00000512344.1:n.*531G>A
ENST00000696039.1:n.1073G>A (ADA)
ENST00000696058.1:c.706G>A (ADA)	ENSP00000512361.1:p.Gly236Arg
ENST00000696059.1:c.*654G>A (ADA)	ENSP00000512362.1:n.*654G>A
ENST00000696060.1:c.778G>A (ADA)	ENSP00000512363.1:p.Gly260Arg
ENST00000696061.1:c.706G>A (ADA)	ENSP00000512364.1:p.Gly236Arg
ENST00000696062.1:c.772G>A (ADA)	ENSP00000512365.1:p.Gly258Arg
ENST00000696063.1:c.784G>A (ADA)	ENSP00000512366.1:p.Gly262Arg
ENST00000696064.1:c.556G>A (ADA)	ENSP00000512367.1:p.Gly186Arg
ENST00000696065.1:c.96G>A (ADA)	ENSP00000512368.1:p.Trp32Ter
ENST00000696073.1:n.1020G>A (ADA)
ENST00000696074.1:n.325G>A (ADA)
ENST00000696075.1:c.*679G>A (ADA)	ENSP00000512374.1:n.*679G>A
ENST00000696076.1:c.778G>A (ADA)	ENSP00000512375.1:p.Gly260Arg
ENST00000696077.1:c.703G>A (ADA)	ENSP00000512376.1:p.Gly235Arg
ENST00000696078.1:c.706G>A (ADA)	ENSP00000512377.1:p.Gly236Arg
ENST00000696079.1:c.706G>A (ADA)	ENSP00000512378.1:p.Gly236Arg
ENST00000696080.1:c.709G>A (ADA)	ENSP00000512379.1:p.Gly237Arg
ENST00000696081.1:n.828G>A (ADA)
ENST00000696082.1:c.784G>A (ADA)	ENSP00000512380.1:p.Gly262Arg
ENST00000696083.1:n.1666G>A (ADA)
ENST00000696084.1:n.886G>A (ADA)
ENST00000696104.1:c.393G>A (ADA)	ENSP00000512399.1:p.Trp131Ter
ENST00000372874.9:c.709G>A (ADA) MANE Select	ENSP00000361965.4:p.Gly237Arg
ENST00000372874.8:c.709G>A (ADA)	ENSP00000361965.4:p.Gly237Arg
ENST00000372887.5:c.152-1033C>T (PKIG)	ENSP00000361978.1:n.152-1033C>T
ENST00000464097.5:n.459G>A (ADA)
ENST00000492931.5:n.869G>A (ADA)
ENST00000536532.5:c.709G>A (ADA)	ENSP00000440946.1:p.Gly237Arg
ENST00000537820.1:c.637G>A (ADA)	ENSP00000441818.1:p.Gly213Arg
ENST00000539235.5:c.*93G>A (ADA)	ENSP00000446464.1:n.*93G>A
NM_000022.2:c.709G>A , LRG_16t1:c.709G>A (ADA)	NP_000013.2:p.Gly237Arg
XM_005260236.2:c.637G>A (ADA)	XP_005260293.1:p.Gly213Arg
XM_011528478.1:c.304G>A (ADA)	XP_011526780.1:p.Gly102Arg
XM_011528479.1:c.304G>A (ADA)	XP_011526781.1:p.Gly102Arg
XR_244129.1:n.763G>A (ADA)
NM_000022.3:c.709G>A (ADA)	NP_000013.2:p.Gly237Arg
NM_001322050.1:c.304G>A (ADA)	NP_001308979.1:p.Gly102Arg
NM_001322051.1:c.637G>A (ADA)	NP_001308980.1:p.Gly213Arg
NR_136160.1:n.860G>A (ADA)
NM_000022.4:c.709G>A (ADA) MANE Select	NP_000013.2:p.Gly237Arg
NM_001322050.2:c.304G>A (ADA)	NP_001308979.1:p.Gly102Arg
NM_001322051.2:c.637G>A (ADA)	NP_001308980.1:p.Gly213Arg
NR_136160.2:n.801G>A (ADA)