Canonical Allele Identifier: CA1017791240

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs1339365686
• gnomAD v3: 20-44623218-C-G
• gnomAD v4: 20-44623218-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623218C>G , CM000682.2:g.44623218C>G	GRCh38
NC_000020.10:g.43251859C>G , CM000682.1:g.43251859C>G	GRCh37
NC_000020.9:g.42685273C>G	NCBI36
NG_007385.1:g.33518G>C , LRG_16:g.33518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.698-140G>C (ADA)
ENST00000536076.2:c.454-140G>C (ADA)	ENSP00000512234.1:n.454-140G>C
ENST00000536532.6:c.607-140G>C (ADA)	ENSP00000440946.1:n.607-140G>C
ENST00000537820.2:c.607-288G>C (ADA)	ENSP00000441818.1:n.607-288G>C
ENST00000539235.6:c.219-140G>C (ADA)	ENSP00000446464.1:n.219-140G>C
ENST00000695889.1:c.219-288G>C (ADA)	ENSP00000512240.1:n.219-288G>C
ENST00000695890.1:n.2410-140G>C (ADA)
ENST00000695891.1:c.219-288G>C (ADA)	ENSP00000512241.1:n.219-288G>C
ENST00000695927.1:c.685-140G>C (ADA)	ENSP00000512270.1:n.685-140G>C
ENST00000695949.1:c.604-288G>C (ADA)	ENSP00000512281.1:n.604-288G>C
ENST00000695957.1:c.*98-140G>C (ADA)	ENSP00000512286.1:n.*98-140G>C
ENST00000695991.1:c.217-288G>C (ADA)	ENSP00000512314.1:n.217-288G>C
ENST00000695992.1:c.607-140G>C (ADA)	ENSP00000512315.1:n.607-140G>C
ENST00000695993.1:c.607-140G>C (ADA)	ENSP00000512316.1:n.607-140G>C
ENST00000695994.1:c.607-140G>C (ADA)	ENSP00000512317.1:n.607-140G>C
ENST00000695995.1:c.217-140G>C (ADA)	ENSP00000512318.1:n.217-140G>C
ENST00000695996.1:n.678-140G>C (ADA)
ENST00000696003.1:n.699-140G>C (ADA)
ENST00000696004.1:n.699-140G>C (ADA)
ENST00000696005.1:c.129-288G>C (ADA)
ENST00000696006.1:c.607-288G>C (ADA)	ENSP00000512325.1:n.607-288G>C
ENST00000696007.1:c.458-140G>C (ADA)	ENSP00000512326.1:n.458-140G>C
ENST00000696008.1:n.2745G>C (ADA)
ENST00000696017.1:c.604-140G>C (ADA)	ENSP00000512333.1:n.604-140G>C
ENST00000696034.1:c.607-140G>C (ADA)	ENSP00000512343.1:n.607-140G>C
ENST00000696035.1:n.717-140G>C (ADA)
ENST00000696036.1:n.1297-140G>C (ADA)
ENST00000696037.1:n.2284-140G>C (ADA)
ENST00000696038.1:c.*353-140G>C (ADA)	ENSP00000512344.1:n.*353-140G>C
ENST00000696039.1:n.895-140G>C (ADA)
ENST00000696058.1:c.607-143G>C (ADA)	ENSP00000512361.1:n.607-143G>C
ENST00000696059.1:c.*552-140G>C (ADA)	ENSP00000512362.1:n.*552-140G>C
ENST00000696060.1:c.607-71G>C (ADA)	ENSP00000512363.1:n.607-71G>C
ENST00000696061.1:c.604-140G>C (ADA)	ENSP00000512364.1:n.604-140G>C
ENST00000696062.1:c.670-140G>C (ADA)	ENSP00000512365.1:n.670-140G>C
ENST00000696063.1:c.682-140G>C (ADA)	ENSP00000512366.1:n.682-140G>C
ENST00000696064.1:c.454-140G>C (ADA)	ENSP00000512367.1:n.454-140G>C
ENST00000696065.1:c.66-288G>C (ADA)	ENSP00000512368.1:n.66-288G>C
ENST00000696073.1:n.702G>C (ADA)
ENST00000696074.1:n.223-140G>C (ADA)
ENST00000696075.1:c.*577-140G>C (ADA)	ENSP00000512374.1:n.*577-140G>C
ENST00000696076.1:c.607-71G>C (ADA)	ENSP00000512375.1:n.607-71G>C
ENST00000696077.1:c.604-143G>C (ADA)	ENSP00000512376.1:n.604-143G>C
ENST00000696078.1:c.607-143G>C (ADA)	ENSP00000512377.1:n.607-143G>C
ENST00000696079.1:c.607-143G>C (ADA)	ENSP00000512378.1:n.607-143G>C
ENST00000696080.1:c.607-140G>C (ADA)	ENSP00000512379.1:n.607-140G>C
ENST00000696081.1:n.726-140G>C (ADA)
ENST00000696082.1:c.685-143G>C (ADA)	ENSP00000512380.1:n.685-143G>C
ENST00000696083.1:n.1488-140G>C (ADA)
ENST00000696084.1:n.708-140G>C (ADA)
ENST00000696104.1:c.363-288G>C (ADA)	ENSP00000512399.1:n.363-288G>C
ENST00000696105.1:c.*148-140G>C (ADA)	ENSP00000512400.1:n.*148-140G>C
ENST00000372874.9:c.607-140G>C (ADA) MANE Select	ENSP00000361965.4:n.607-140G>C
ENST00000372874.8:c.607-140G>C (ADA)	ENSP00000361965.4:n.607-140G>C
ENST00000372887.5:c.152-715C>G (PKIG)	ENSP00000361978.1:n.152-715C>G
ENST00000464097.5:n.281-140G>C (ADA)
ENST00000492931.5:n.691-140G>C (ADA)
ENST00000536532.5:c.607-140G>C (ADA)	ENSP00000440946.1:n.607-140G>C
ENST00000537820.1:c.607-288G>C (ADA)	ENSP00000441818.1:n.607-288G>C
ENST00000539235.5:c.219-140G>C (ADA)	ENSP00000446464.1:n.219-140G>C
NM_000022.2:c.607-140G>C , LRG_16t1:c.607-140G>C (ADA)	NP_000013.2:n.607-140G>C
XM_005260236.2:c.607-288G>C (ADA)	XP_005260293.1:n.607-288G>C
XM_011528478.1:c.202-140G>C (ADA)	XP_011526780.1:n.202-140G>C
XM_011528479.1:c.202-140G>C (ADA)	XP_011526781.1:n.202-140G>C
XR_244129.1:n.661-140G>C (ADA)
NM_000022.3:c.607-140G>C (ADA)	NP_000013.2:n.607-140G>C
NM_001322050.1:c.202-140G>C (ADA)	NP_001308979.1:n.202-140G>C
NM_001322051.1:c.607-288G>C (ADA)	NP_001308980.1:n.607-288G>C
NR_136160.1:n.758-140G>C (ADA)
NM_000022.4:c.607-140G>C (ADA) MANE Select	NP_000013.2:n.607-140G>C
NM_001322050.2:c.202-140G>C (ADA)	NP_001308979.1:n.202-140G>C
NM_001322051.2:c.607-288G>C (ADA)	NP_001308980.1:n.607-288G>C
NR_136160.2:n.699-140G>C (ADA)