Canonical Allele Identifier: CA9871587

Gene: ADA PKIG

Linked Data

• ClinVar Variation Id: 1158919
• ClinVar RCV Id: RCV001502508
• dbSNP Id: rs779676480
• ExAC: 20:43251726 G / C
• gnomAD v2: 20-43251726-G-C
• gnomAD v4: 20-44623085-G-C
• MyVariant Identifiers: chr20:g.43251726G>C (hg19) ; chr20:g.44623085G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623085G>C , CM000682.2:g.44623085G>C	GRCh38
NC_000020.10:g.43251726G>C , CM000682.1:g.43251726G>C	GRCh37
NC_000020.9:g.42685140G>C	NCBI36
NG_007385.1:g.33651C>G , LRG_16:g.33651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.698-7C>G (ADA)
ENST00000536076.2:c.454-7C>G (ADA)	ENSP00000512234.1:n.454-7C>G
ENST00000536532.6:c.607-7C>G (ADA)	ENSP00000440946.1:n.607-7C>G
ENST00000537820.2:c.607-155C>G (ADA)	ENSP00000441818.1:n.607-155C>G
ENST00000539235.6:c.219-7C>G (ADA)	ENSP00000446464.1:n.219-7C>G
ENST00000695889.1:c.219-155C>G (ADA)	ENSP00000512240.1:n.219-155C>G
ENST00000695890.1:n.2410-7C>G (ADA)
ENST00000695891.1:c.219-155C>G (ADA)	ENSP00000512241.1:n.219-155C>G
ENST00000695927.1:c.685-7C>G (ADA)	ENSP00000512270.1:n.685-7C>G
ENST00000695949.1:c.604-155C>G (ADA)	ENSP00000512281.1:n.604-155C>G
ENST00000695957.1:c.*98-7C>G (ADA)	ENSP00000512286.1:n.*98-7C>G
ENST00000695991.1:c.217-155C>G (ADA)	ENSP00000512314.1:n.217-155C>G
ENST00000695992.1:c.607-7C>G (ADA)	ENSP00000512315.1:n.607-7C>G
ENST00000695993.1:c.607-7C>G (ADA)	ENSP00000512316.1:n.607-7C>G
ENST00000695994.1:c.607-7C>G (ADA)	ENSP00000512317.1:n.607-7C>G
ENST00000695995.1:c.217-7C>G (ADA)	ENSP00000512318.1:n.217-7C>G
ENST00000695996.1:n.678-7C>G (ADA)
ENST00000696003.1:n.699-7C>G (ADA)
ENST00000696004.1:n.699-7C>G (ADA)
ENST00000696005.1:c.129-155C>G (ADA)
ENST00000696006.1:c.607-155C>G (ADA)	ENSP00000512325.1:n.607-155C>G
ENST00000696007.1:c.458-7C>G (ADA)	ENSP00000512326.1:n.458-7C>G
ENST00000696008.1:n.2878C>G (ADA)
ENST00000696017.1:c.604-7C>G (ADA)	ENSP00000512333.1:n.604-7C>G
ENST00000696034.1:c.607-7C>G (ADA)	ENSP00000512343.1:n.607-7C>G
ENST00000696035.1:n.717-7C>G (ADA)
ENST00000696036.1:n.1297-7C>G (ADA)
ENST00000696037.1:n.2284-7C>G (ADA)
ENST00000696038.1:c.*353-7C>G (ADA)	ENSP00000512344.1:n.*353-7C>G
ENST00000696039.1:n.895-7C>G (ADA)
ENST00000696058.1:c.607-10C>G (ADA)	ENSP00000512361.1:n.607-10C>G
ENST00000696059.1:c.*552-7C>G (ADA)	ENSP00000512362.1:n.*552-7C>G
ENST00000696060.1:c.669C>G (ADA)	ENSP00000512363.1:p.Pro223=
ENST00000696061.1:c.604-7C>G (ADA)	ENSP00000512364.1:n.604-7C>G
ENST00000696062.1:c.670-7C>G (ADA)	ENSP00000512365.1:n.670-7C>G
ENST00000696063.1:c.682-7C>G (ADA)	ENSP00000512366.1:n.682-7C>G
ENST00000696064.1:c.454-7C>G (ADA)	ENSP00000512367.1:n.454-7C>G
ENST00000696065.1:c.66-155C>G (ADA)	ENSP00000512368.1:n.66-155C>G
ENST00000696073.1:n.835C>G (ADA)
ENST00000696074.1:n.223-7C>G (ADA)
ENST00000696075.1:c.*577-7C>G (ADA)	ENSP00000512374.1:n.*577-7C>G
ENST00000696076.1:c.669C>G (ADA)	ENSP00000512375.1:p.Pro223=
ENST00000696077.1:c.604-10C>G (ADA)	ENSP00000512376.1:n.604-10C>G
ENST00000696078.1:c.607-10C>G (ADA)	ENSP00000512377.1:n.607-10C>G
ENST00000696079.1:c.607-10C>G (ADA)	ENSP00000512378.1:n.607-10C>G
ENST00000696080.1:c.607-7C>G (ADA)	ENSP00000512379.1:n.607-7C>G
ENST00000696081.1:n.726-7C>G (ADA)
ENST00000696082.1:c.685-10C>G (ADA)	ENSP00000512380.1:n.685-10C>G
ENST00000696083.1:n.1488-7C>G (ADA)
ENST00000696084.1:n.708-7C>G (ADA)
ENST00000696104.1:c.363-155C>G (ADA)	ENSP00000512399.1:n.363-155C>G
ENST00000696105.1:c.*148-7C>G (ADA)	ENSP00000512400.1:n.*148-7C>G
ENST00000372874.9:c.607-7C>G (ADA) MANE Select	ENSP00000361965.4:n.607-7C>G
ENST00000372874.8:c.607-7C>G (ADA)	ENSP00000361965.4:n.607-7C>G
ENST00000372887.5:c.152-848G>C (PKIG)	ENSP00000361978.1:n.152-848G>C
ENST00000464097.5:n.281-7C>G (ADA)
ENST00000492931.5:n.691-7C>G (ADA)
ENST00000536532.5:c.607-7C>G (ADA)	ENSP00000440946.1:n.607-7C>G
ENST00000537820.1:c.607-155C>G (ADA)	ENSP00000441818.1:n.607-155C>G
ENST00000539235.5:c.219-7C>G (ADA)	ENSP00000446464.1:n.219-7C>G
NM_000022.2:c.607-7C>G , LRG_16t1:c.607-7C>G (ADA)	NP_000013.2:n.607-7C>G
XM_005260236.2:c.607-155C>G (ADA)	XP_005260293.1:n.607-155C>G
XM_011528478.1:c.202-7C>G (ADA)	XP_011526780.1:n.202-7C>G
XM_011528479.1:c.202-7C>G (ADA)	XP_011526781.1:n.202-7C>G
XR_244129.1:n.661-7C>G (ADA)
NM_000022.3:c.607-7C>G (ADA)	NP_000013.2:n.607-7C>G
NM_001322050.1:c.202-7C>G (ADA)	NP_001308979.1:n.202-7C>G
NM_001322051.1:c.607-155C>G (ADA)	NP_001308980.1:n.607-155C>G
NR_136160.1:n.758-7C>G (ADA)
NM_000022.4:c.607-7C>G (ADA) MANE Select	NP_000013.2:n.607-7C>G
NM_001322050.2:c.202-7C>G (ADA)	NP_001308979.1:n.202-7C>G
NM_001322051.2:c.607-155C>G (ADA)	NP_001308980.1:n.607-155C>G
NR_136160.2:n.699-7C>G (ADA)