Canonical Allele Identifier: CA409120916

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43252930C>G (hg19) ; chr20:g.44624289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624289C>G , CM000682.2:g.44624289C>G	GRCh38
NC_000020.10:g.43252930C>G , CM000682.1:g.43252930C>G	GRCh37
NC_000020.9:g.42686344C>G	NCBI36
NG_007385.1:g.32447G>C , LRG_16:g.32447G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.610G>C
ENST00000536076.2:c.366G>C	ENSP00000512234.1:p.Gln122His
ENST00000536532.6:c.519G>C	ENSP00000440946.1:p.Gln173His
ENST00000537820.2:c.519G>C	ENSP00000441818.1:p.Gln173His
ENST00000539235.6:c.219-1211G>C	ENSP00000446464.1:n.219-1211G>C
ENST00000695889.1:c.219-1359G>C	ENSP00000512240.1:n.219-1359G>C
ENST00000695890.1:n.2322G>C
ENST00000695891.1:c.219-1359G>C	ENSP00000512241.1:n.219-1359G>C
ENST00000695927.1:c.597G>C	ENSP00000512270.1:p.Gln199His
ENST00000695949.1:c.516G>C	ENSP00000512281.1:p.Gln172His
ENST00000695957.1:c.*10G>C	ENSP00000512286.1:n.*10G>C
ENST00000695991.1:c.217-1359G>C	ENSP00000512314.1:n.217-1359G>C
ENST00000695992.1:c.519G>C	ENSP00000512315.1:p.Gln173His
ENST00000695993.1:c.519G>C	ENSP00000512316.1:p.Gln173His
ENST00000695994.1:c.519G>C	ENSP00000512317.1:p.Gln173His
ENST00000695995.1:c.217-1211G>C	ENSP00000512318.1:n.217-1211G>C
ENST00000695996.1:n.590G>C
ENST00000695997.1:n.474G>C
ENST00000696003.1:n.611G>C
ENST00000696004.1:n.611G>C
ENST00000696005.1:c.41G>C
ENST00000696006.1:c.519G>C	ENSP00000512325.1:p.Gln173His
ENST00000696007.1:c.370G>C	ENSP00000512326.1:n.370G>C
ENST00000696008.1:n.1674G>C
ENST00000696009.1:n.1869G>C
ENST00000696017.1:c.516G>C	ENSP00000512333.1:p.Gln172His
ENST00000696034.1:c.519G>C	ENSP00000512343.1:p.Gln173His
ENST00000696035.1:n.629G>C
ENST00000696036.1:n.1209G>C
ENST00000696037.1:n.2196G>C
ENST00000696038.1:c.*265G>C	ENSP00000512344.1:n.*265G>C
ENST00000696039.1:n.807G>C
ENST00000696058.1:c.519G>C	ENSP00000512361.1:p.Gln173His
ENST00000696059.1:c.*464G>C	ENSP00000512362.1:n.*464G>C
ENST00000696060.1:c.519G>C	ENSP00000512363.1:p.Gln173His
ENST00000696061.1:c.516G>C	ENSP00000512364.1:p.Gln172His
ENST00000696062.1:c.582G>C	ENSP00000512365.1:p.Gln194His
ENST00000696063.1:c.594G>C	ENSP00000512366.1:p.Gln198His
ENST00000696064.1:c.366G>C	ENSP00000512367.1:p.Gln122His
ENST00000696065.1:c.66-1359G>C	ENSP00000512368.1:n.66-1359G>C
ENST00000696074.1:n.135G>C
ENST00000696075.1:c.*489G>C	ENSP00000512374.1:n.*489G>C
ENST00000696076.1:c.519G>C	ENSP00000512375.1:p.Gln173His
ENST00000696077.1:c.516G>C	ENSP00000512376.1:p.Gln172His
ENST00000696078.1:c.519G>C	ENSP00000512377.1:p.Gln173His
ENST00000696079.1:c.519G>C	ENSP00000512378.1:p.Gln173His
ENST00000696080.1:c.519G>C	ENSP00000512379.1:p.Gln173His
ENST00000696081.1:n.638G>C
ENST00000696082.1:c.597G>C	ENSP00000512380.1:p.Gln199His
ENST00000696083.1:n.1400G>C
ENST00000696084.1:n.620G>C
ENST00000696104.1:c.363-1359G>C	ENSP00000512399.1:n.363-1359G>C
ENST00000696105.1:c.*60G>C	ENSP00000512400.1:n.*60G>C
ENST00000372874.9:c.519G>C MANE Select	ENSP00000361965.4:p.Gln173His
ENST00000372874.8:c.519G>C	ENSP00000361965.4:p.Gln173His
ENST00000464097.5:n.193G>C
ENST00000492931.5:n.603G>C
ENST00000536532.5:c.519G>C	ENSP00000440946.1:p.Gln173His
ENST00000537820.1:c.519G>C	ENSP00000441818.1:p.Gln173His
ENST00000539235.5:c.219-1211G>C	ENSP00000446464.1:n.219-1211G>C
NM_000022.2:c.519G>C , LRG_16t1:c.519G>C	NP_000013.2:p.Gln173His
XM_005260236.2:c.519G>C	XP_005260293.1:p.Gln173His
XM_011528478.1:c.114G>C	XP_011526780.1:p.Gln38His
XM_011528479.1:c.114G>C	XP_011526781.1:p.Gln38His
XR_244129.1:n.573G>C
NM_000022.3:c.519G>C	NP_000013.2:p.Gln173His
NM_001322050.1:c.114G>C	NP_001308979.1:p.Gln38His
NM_001322051.1:c.519G>C	NP_001308980.1:p.Gln173His
NR_136160.1:n.670G>C
NM_000022.4:c.519G>C MANE Select	NP_000013.2:p.Gln173His
NM_001322050.2:c.114G>C	NP_001308979.1:p.Gln38His
NM_001322051.2:c.519G>C	NP_001308980.1:p.Gln173His
NR_136160.2:n.611G>C