Canonical Allele Identifier: CA9871780

Gene: ADA

Linked Data

• dbSNP Id: rs746622099
• ExAC: 20:43264877 T / C
• gnomAD v2: 20-43264877-T-C
• gnomAD v3: 20-44636236-T-C
• gnomAD v4: 20-44636236-T-C
• MyVariant Identifiers: chr20:g.43264877T>C (hg19) ; chr20:g.44636236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636236T>C , CM000682.2:g.44636236T>C	GRCh38
NC_000020.10:g.43264877T>C , CM000682.1:g.43264877T>C	GRCh37
NC_000020.9:g.42698291T>C	NCBI36
NG_007385.1:g.20500A>G , LRG_16:g.20500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.177A>G
ENST00000536076.2:c.-68A>G	ENSP00000512234.1:n.-68A>G
ENST00000536532.6:c.86A>G	ENSP00000440946.1:p.Tyr29Cys
ENST00000537820.2:c.86A>G	ENSP00000441818.1:p.Tyr29Cys
ENST00000539235.6:c.86A>G	ENSP00000446464.1:p.Tyr29Cys
ENST00000695889.1:c.86A>G	ENSP00000512240.1:p.Tyr29Cys
ENST00000695891.1:c.86A>G	ENSP00000512241.1:p.Tyr29Cys
ENST00000695927.1:c.164A>G	ENSP00000512270.1:p.Tyr55Cys
ENST00000695949.1:c.86A>G	ENSP00000512281.1:p.Tyr29Cys
ENST00000695957.1:c.86A>G	ENSP00000512286.1:p.Tyr29Cys
ENST00000695991.1:c.86A>G	ENSP00000512314.1:p.Tyr29Cys
ENST00000695992.1:c.86A>G	ENSP00000512315.1:p.Tyr29Cys
ENST00000695993.1:c.86A>G	ENSP00000512316.1:p.Tyr29Cys
ENST00000695994.1:c.86A>G	ENSP00000512317.1:p.Tyr29Cys
ENST00000695995.1:c.86A>G	ENSP00000512318.1:p.Tyr29Cys
ENST00000695996.1:n.157A>G
ENST00000695997.1:n.157A>G
ENST00000696003.1:n.178A>G
ENST00000696004.1:n.178A>G
ENST00000696006.1:c.86A>G	ENSP00000512325.1:p.Tyr29Cys
ENST00000696007.1:c.53A>G	ENSP00000512326.1:p.Tyr18Cys
ENST00000696009.1:n.197A>G
ENST00000696010.1:n.199A>G
ENST00000696017.1:c.86A>G	ENSP00000512333.1:p.Tyr29Cys
ENST00000696034.1:c.86A>G	ENSP00000512343.1:p.Tyr29Cys
ENST00000696038.1:c.86A>G	ENSP00000512344.1:p.Tyr29Cys
ENST00000696039.1:n.374A>G
ENST00000696058.1:c.86A>G	ENSP00000512361.1:p.Tyr29Cys
ENST00000696059.1:c.*31A>G	ENSP00000512362.1:n.*31A>G
ENST00000696060.1:c.86A>G	ENSP00000512363.1:p.Tyr29Cys
ENST00000696061.1:c.86A>G	ENSP00000512364.1:p.Tyr29Cys
ENST00000696062.1:c.149A>G	ENSP00000512365.1:p.Tyr50Cys
ENST00000696063.1:c.161A>G	ENSP00000512366.1:p.Tyr54Cys
ENST00000696064.1:c.-65A>G	ENSP00000512367.1:n.-65A>G
ENST00000696065.1:c.-68A>G	ENSP00000512368.1:n.-68A>G
ENST00000696075.1:c.86A>G	ENSP00000512374.1:p.Tyr29Cys
ENST00000696076.1:c.86A>G	ENSP00000512375.1:p.Tyr29Cys
ENST00000696077.1:c.86A>G	ENSP00000512376.1:p.Tyr29Cys
ENST00000696078.1:c.86A>G	ENSP00000512377.1:p.Tyr29Cys
ENST00000696079.1:c.86A>G	ENSP00000512378.1:p.Tyr29Cys
ENST00000696080.1:c.86A>G	ENSP00000512379.1:p.Tyr29Cys
ENST00000696082.1:c.164A>G	ENSP00000512380.1:p.Tyr55Cys
ENST00000696084.1:n.187A>G
ENST00000696104.1:c.86A>G	ENSP00000512399.1:p.Tyr29Cys
ENST00000696105.1:c.86A>G	ENSP00000512400.1:p.Tyr29Cys
ENST00000372874.9:c.86A>G MANE Select	ENSP00000361965.4:p.Tyr29Cys
ENST00000372874.8:c.86A>G	ENSP00000361965.4:p.Tyr29Cys
ENST00000492931.5:n.170A>G
ENST00000535573.1:n.385A>G
ENST00000536076.1:n.266A>G
ENST00000536532.5:c.86A>G	ENSP00000440946.1:p.Tyr29Cys
ENST00000537820.1:c.86A>G	ENSP00000441818.1:p.Tyr29Cys
ENST00000539235.5:c.86A>G	ENSP00000446464.1:p.Tyr29Cys
ENST00000545776.5:n.140A>G
NM_000022.2:c.86A>G , LRG_16t1:c.86A>G	NP_000013.2:p.Tyr29Cys
XM_005260236.2:c.86A>G	XP_005260293.1:p.Tyr29Cys
XM_011528478.1:c.-204A>G	XP_011526780.1:n.-204A>G
XM_011528479.1:c.-204A>G	XP_011526781.1:n.-204A>G
XR_244129.1:n.140A>G
NM_000022.3:c.86A>G	NP_000013.2:p.Tyr29Cys
NM_001322050.1:c.-204A>G	NP_001308979.1:n.-204A>G
NM_001322051.1:c.86A>G	NP_001308980.1:p.Tyr29Cys
NR_136160.1:n.237A>G
NM_000022.4:c.86A>G MANE Select	NP_000013.2:p.Tyr29Cys
NM_001322050.2:c.-204A>G	NP_001308979.1:n.-204A>G
NM_001322051.2:c.86A>G	NP_001308980.1:p.Tyr29Cys
NR_136160.2:n.178A>G