Canonical Allele Identifier: CA2652990472

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44622992-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622992A>T , CM000682.2:g.44622992A>T	GRCh38
NC_000020.10:g.43251633A>T , CM000682.1:g.43251633A>T	GRCh37
NC_000020.9:g.42685047A>T	NCBI36
NG_007385.1:g.33744T>A , LRG_16:g.33744T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.784T>A (ADA)
ENST00000536076.2:c.525+15T>A (ADA)	ENSP00000512234.1:n.525+15T>A
ENST00000536532.6:c.678+15T>A (ADA)	ENSP00000440946.1:n.678+15T>A
ENST00000537820.2:c.607-62T>A (ADA)	ENSP00000441818.1:n.607-62T>A
ENST00000539235.6:c.*62+15T>A (ADA)	ENSP00000446464.1:n.*62+15T>A
ENST00000695889.1:c.219-62T>A (ADA)	ENSP00000512240.1:n.219-62T>A
ENST00000695890.1:n.2496T>A (ADA)
ENST00000695891.1:c.219-62T>A (ADA)	ENSP00000512241.1:n.219-62T>A
ENST00000695927.1:c.756+15T>A (ADA)	ENSP00000512270.1:n.756+15T>A
ENST00000695949.1:c.604-62T>A (ADA)	ENSP00000512281.1:n.604-62T>A
ENST00000695957.1:c.*169+15T>A (ADA)	ENSP00000512286.1:n.*169+15T>A
ENST00000695991.1:c.217-62T>A (ADA)	ENSP00000512314.1:n.217-62T>A
ENST00000695992.1:c.678+15T>A (ADA)	ENSP00000512315.1:n.678+15T>A
ENST00000695993.1:c.678+15T>A (ADA)	ENSP00000512316.1:n.678+15T>A
ENST00000695994.1:c.651+42T>A (ADA)	ENSP00000512317.1:n.651+42T>A
ENST00000695995.1:c.288+15T>A (ADA)	ENSP00000512318.1:n.288+15T>A
ENST00000695996.1:n.764T>A (ADA)
ENST00000696003.1:n.785T>A (ADA)
ENST00000696004.1:n.785T>A (ADA)
ENST00000696005.1:c.129-62T>A (ADA)
ENST00000696006.1:c.607-62T>A (ADA)	ENSP00000512325.1:n.607-62T>A
ENST00000696007.1:c.544T>A (ADA)	ENSP00000512326.1:n.544T>A
ENST00000696008.1:n.2971T>A (ADA)
ENST00000696017.1:c.675+15T>A (ADA)	ENSP00000512333.1:n.675+15T>A
ENST00000696034.1:c.678+15T>A (ADA)	ENSP00000512343.1:n.678+15T>A
ENST00000696035.1:n.803T>A (ADA)
ENST00000696036.1:n.1383T>A (ADA)
ENST00000696037.1:n.2355+15T>A (ADA)
ENST00000696038.1:c.*439T>A (ADA)	ENSP00000512344.1:n.*439T>A
ENST00000696039.1:n.981T>A (ADA)
ENST00000696058.1:c.675+15T>A (ADA)	ENSP00000512361.1:n.675+15T>A
ENST00000696059.1:c.*623+15T>A (ADA)	ENSP00000512362.1:n.*623+15T>A
ENST00000696060.1:c.747+15T>A (ADA)	ENSP00000512363.1:n.747+15T>A
ENST00000696061.1:c.675+15T>A (ADA)	ENSP00000512364.1:n.675+15T>A
ENST00000696062.1:c.741+15T>A (ADA)	ENSP00000512365.1:n.741+15T>A
ENST00000696063.1:c.753+15T>A (ADA)	ENSP00000512366.1:n.753+15T>A
ENST00000696064.1:c.525+15T>A (ADA)	ENSP00000512367.1:n.525+15T>A
ENST00000696065.1:c.66-62T>A (ADA)	ENSP00000512368.1:n.66-62T>A
ENST00000696073.1:n.928T>A (ADA)
ENST00000696074.1:n.294+15T>A (ADA)
ENST00000696075.1:c.*648+15T>A (ADA)	ENSP00000512374.1:n.*648+15T>A
ENST00000696076.1:c.747+15T>A (ADA)	ENSP00000512375.1:n.747+15T>A
ENST00000696077.1:c.672+15T>A (ADA)	ENSP00000512376.1:n.672+15T>A
ENST00000696078.1:c.675+15T>A (ADA)	ENSP00000512377.1:n.675+15T>A
ENST00000696079.1:c.675+15T>A (ADA)	ENSP00000512378.1:n.675+15T>A
ENST00000696080.1:c.678+15T>A (ADA)	ENSP00000512379.1:n.678+15T>A
ENST00000696081.1:n.797+15T>A (ADA)
ENST00000696082.1:c.753+15T>A (ADA)	ENSP00000512380.1:n.753+15T>A
ENST00000696083.1:n.1574T>A (ADA)
ENST00000696084.1:n.794T>A (ADA)
ENST00000696104.1:c.363-62T>A (ADA)	ENSP00000512399.1:n.363-62T>A
ENST00000372874.9:c.678+15T>A (ADA) MANE Select	ENSP00000361965.4:n.678+15T>A
ENST00000372874.8:c.678+15T>A (ADA)	ENSP00000361965.4:n.678+15T>A
ENST00000372887.5:c.152-941A>T (PKIG)	ENSP00000361978.1:n.152-941A>T
ENST00000464097.5:n.367T>A (ADA)
ENST00000492931.5:n.777T>A (ADA)
ENST00000536532.5:c.678+15T>A (ADA)	ENSP00000440946.1:n.678+15T>A
ENST00000537820.1:c.607-62T>A (ADA)	ENSP00000441818.1:n.607-62T>A
ENST00000539235.5:c.*62+15T>A (ADA)	ENSP00000446464.1:n.*62+15T>A
NM_000022.2:c.678+15T>A , LRG_16t1:c.678+15T>A (ADA)	NP_000013.2:n.678+15T>A
XM_005260236.2:c.607-62T>A (ADA)	XP_005260293.1:n.607-62T>A
XM_011528478.1:c.273+15T>A (ADA)	XP_011526780.1:n.273+15T>A
XM_011528479.1:c.273+15T>A (ADA)	XP_011526781.1:n.273+15T>A
XR_244129.1:n.732+15T>A (ADA)
NM_000022.3:c.678+15T>A (ADA)	NP_000013.2:n.678+15T>A
NM_001322050.1:c.273+15T>A (ADA)	NP_001308979.1:n.273+15T>A
NM_001322051.1:c.607-62T>A (ADA)	NP_001308980.1:n.607-62T>A
NR_136160.1:n.829+15T>A (ADA)
NM_000022.4:c.678+15T>A (ADA) MANE Select	NP_000013.2:n.678+15T>A
NM_001322050.2:c.273+15T>A (ADA)	NP_001308979.1:n.273+15T>A
NM_001322051.2:c.607-62T>A (ADA)	NP_001308980.1:n.607-62T>A
NR_136160.2:n.770+15T>A (ADA)