Canonical Allele Identifier: CA2652990471

Gene: ADA PKIG

Linked Data

• ClinVar Variation Id: 2912258
• ClinVar RCV Id: RCV003603899
• gnomAD v4: 20-44622990-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622990C>T , CM000682.2:g.44622990C>T	GRCh38
NC_000020.10:g.43251631C>T , CM000682.1:g.43251631C>T	GRCh37
NC_000020.9:g.42685045C>T	NCBI36
NG_007385.1:g.33746G>A , LRG_16:g.33746G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.786G>A (ADA)
ENST00000536076.2:c.525+17G>A (ADA)	ENSP00000512234.1:n.525+17G>A
ENST00000536532.6:c.678+17G>A (ADA)	ENSP00000440946.1:n.678+17G>A
ENST00000537820.2:c.607-60G>A (ADA)	ENSP00000441818.1:n.607-60G>A
ENST00000539235.6:c.*62+17G>A (ADA)	ENSP00000446464.1:n.*62+17G>A
ENST00000695889.1:c.219-60G>A (ADA)	ENSP00000512240.1:n.219-60G>A
ENST00000695890.1:n.2498G>A (ADA)
ENST00000695891.1:c.219-60G>A (ADA)	ENSP00000512241.1:n.219-60G>A
ENST00000695927.1:c.756+17G>A (ADA)	ENSP00000512270.1:n.756+17G>A
ENST00000695949.1:c.604-60G>A (ADA)	ENSP00000512281.1:n.604-60G>A
ENST00000695957.1:c.*169+17G>A (ADA)	ENSP00000512286.1:n.*169+17G>A
ENST00000695991.1:c.217-60G>A (ADA)	ENSP00000512314.1:n.217-60G>A
ENST00000695992.1:c.678+17G>A (ADA)	ENSP00000512315.1:n.678+17G>A
ENST00000695993.1:c.678+17G>A (ADA)	ENSP00000512316.1:n.678+17G>A
ENST00000695994.1:c.651+44G>A (ADA)	ENSP00000512317.1:n.651+44G>A
ENST00000695995.1:c.288+17G>A (ADA)	ENSP00000512318.1:n.288+17G>A
ENST00000695996.1:n.766G>A (ADA)
ENST00000696003.1:n.787G>A (ADA)
ENST00000696004.1:n.787G>A (ADA)
ENST00000696005.1:c.129-60G>A (ADA)
ENST00000696006.1:c.607-60G>A (ADA)	ENSP00000512325.1:n.607-60G>A
ENST00000696007.1:c.546G>A (ADA)	ENSP00000512326.1:n.546G>A
ENST00000696008.1:n.2973G>A (ADA)
ENST00000696017.1:c.675+17G>A (ADA)	ENSP00000512333.1:n.675+17G>A
ENST00000696034.1:c.678+17G>A (ADA)	ENSP00000512343.1:n.678+17G>A
ENST00000696035.1:n.805G>A (ADA)
ENST00000696036.1:n.1385G>A (ADA)
ENST00000696037.1:n.2355+17G>A (ADA)
ENST00000696038.1:c.*441G>A (ADA)	ENSP00000512344.1:n.*441G>A
ENST00000696039.1:n.983G>A (ADA)
ENST00000696058.1:c.675+17G>A (ADA)	ENSP00000512361.1:n.675+17G>A
ENST00000696059.1:c.*623+17G>A (ADA)	ENSP00000512362.1:n.*623+17G>A
ENST00000696060.1:c.747+17G>A (ADA)	ENSP00000512363.1:n.747+17G>A
ENST00000696061.1:c.675+17G>A (ADA)	ENSP00000512364.1:n.675+17G>A
ENST00000696062.1:c.741+17G>A (ADA)	ENSP00000512365.1:n.741+17G>A
ENST00000696063.1:c.753+17G>A (ADA)	ENSP00000512366.1:n.753+17G>A
ENST00000696064.1:c.525+17G>A (ADA)	ENSP00000512367.1:n.525+17G>A
ENST00000696065.1:c.66-60G>A (ADA)	ENSP00000512368.1:n.66-60G>A
ENST00000696073.1:n.930G>A (ADA)
ENST00000696074.1:n.294+17G>A (ADA)
ENST00000696075.1:c.*648+17G>A (ADA)	ENSP00000512374.1:n.*648+17G>A
ENST00000696076.1:c.747+17G>A (ADA)	ENSP00000512375.1:n.747+17G>A
ENST00000696077.1:c.672+17G>A (ADA)	ENSP00000512376.1:n.672+17G>A
ENST00000696078.1:c.675+17G>A (ADA)	ENSP00000512377.1:n.675+17G>A
ENST00000696079.1:c.675+17G>A (ADA)	ENSP00000512378.1:n.675+17G>A
ENST00000696080.1:c.678+17G>A (ADA)	ENSP00000512379.1:n.678+17G>A
ENST00000696081.1:n.797+17G>A (ADA)
ENST00000696082.1:c.753+17G>A (ADA)	ENSP00000512380.1:n.753+17G>A
ENST00000696083.1:n.1576G>A (ADA)
ENST00000696084.1:n.796G>A (ADA)
ENST00000696104.1:c.363-60G>A (ADA)	ENSP00000512399.1:n.363-60G>A
ENST00000372874.9:c.678+17G>A (ADA) MANE Select	ENSP00000361965.4:n.678+17G>A
ENST00000372874.8:c.678+17G>A (ADA)	ENSP00000361965.4:n.678+17G>A
ENST00000372887.5:c.152-943C>T (PKIG)	ENSP00000361978.1:n.152-943C>T
ENST00000464097.5:n.369G>A (ADA)
ENST00000492931.5:n.779G>A (ADA)
ENST00000536532.5:c.678+17G>A (ADA)	ENSP00000440946.1:n.678+17G>A
ENST00000537820.1:c.607-60G>A (ADA)	ENSP00000441818.1:n.607-60G>A
ENST00000539235.5:c.*62+17G>A (ADA)	ENSP00000446464.1:n.*62+17G>A
NM_000022.2:c.678+17G>A , LRG_16t1:c.678+17G>A (ADA)	NP_000013.2:n.678+17G>A
XM_005260236.2:c.607-60G>A (ADA)	XP_005260293.1:n.607-60G>A
XM_011528478.1:c.273+17G>A (ADA)	XP_011526780.1:n.273+17G>A
XM_011528479.1:c.273+17G>A (ADA)	XP_011526781.1:n.273+17G>A
XR_244129.1:n.732+17G>A (ADA)
NM_000022.3:c.678+17G>A (ADA)	NP_000013.2:n.678+17G>A
NM_001322050.1:c.273+17G>A (ADA)	NP_001308979.1:n.273+17G>A
NM_001322051.1:c.607-60G>A (ADA)	NP_001308980.1:n.607-60G>A
NR_136160.1:n.829+17G>A (ADA)
NM_000022.4:c.678+17G>A (ADA) MANE Select	NP_000013.2:n.678+17G>A
NM_001322050.2:c.273+17G>A (ADA)	NP_001308979.1:n.273+17G>A
NM_001322051.2:c.607-60G>A (ADA)	NP_001308980.1:n.607-60G>A
NR_136160.2:n.770+17G>A (ADA)