Canonical Allele Identifier: CA9871575

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs768814204
• ExAC: 20:43251674 C / G
• gnomAD v2: 20-43251674-C-G
• gnomAD v4: 20-44623033-C-G
• MyVariant Identifiers: chr20:g.43251674C>G (hg19) ; chr20:g.44623033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623033C>G , CM000682.2:g.44623033C>G	GRCh38
NC_000020.10:g.43251674C>G , CM000682.1:g.43251674C>G	GRCh37
NC_000020.9:g.42685088C>G	NCBI36
NG_007385.1:g.33703G>C , LRG_16:g.33703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.743G>C (ADA)
ENST00000536076.2:c.499G>C (ADA)	ENSP00000512234.1:p.Val167Leu
ENST00000536532.6:c.652G>C (ADA)	ENSP00000440946.1:p.Val218Leu
ENST00000537820.2:c.607-103G>C (ADA)	ENSP00000441818.1:n.607-103G>C
ENST00000539235.6:c.*36G>C (ADA)	ENSP00000446464.1:n.*36G>C
ENST00000695889.1:c.219-103G>C (ADA)	ENSP00000512240.1:n.219-103G>C
ENST00000695890.1:n.2455G>C (ADA)
ENST00000695891.1:c.219-103G>C (ADA)	ENSP00000512241.1:n.219-103G>C
ENST00000695927.1:c.730G>C (ADA)	ENSP00000512270.1:p.Val244Leu
ENST00000695949.1:c.604-103G>C (ADA)	ENSP00000512281.1:n.604-103G>C
ENST00000695957.1:c.*143G>C (ADA)	ENSP00000512286.1:n.*143G>C
ENST00000695991.1:c.217-103G>C (ADA)	ENSP00000512314.1:n.217-103G>C
ENST00000695992.1:c.652G>C (ADA)	ENSP00000512315.1:p.Val218Leu
ENST00000695993.1:c.652G>C (ADA)	ENSP00000512316.1:p.Val218Leu
ENST00000695994.1:c.651+1G>C (ADA)	ENSP00000512317.1:n.651+1G>C
ENST00000695995.1:c.262G>C (ADA)	ENSP00000512318.1:p.Val88Leu
ENST00000695996.1:n.723G>C (ADA)
ENST00000696003.1:n.744G>C (ADA)
ENST00000696004.1:n.744G>C (ADA)
ENST00000696005.1:c.129-103G>C (ADA)
ENST00000696006.1:c.607-103G>C (ADA)	ENSP00000512325.1:n.607-103G>C
ENST00000696007.1:c.503G>C (ADA)	ENSP00000512326.1:n.503G>C
ENST00000696008.1:n.2930G>C (ADA)
ENST00000696017.1:c.649G>C (ADA)	ENSP00000512333.1:p.Val217Leu
ENST00000696034.1:c.652G>C (ADA)	ENSP00000512343.1:p.Val218Leu
ENST00000696035.1:n.762G>C (ADA)
ENST00000696036.1:n.1342G>C (ADA)
ENST00000696037.1:n.2329G>C (ADA)
ENST00000696038.1:c.*398G>C (ADA)	ENSP00000512344.1:n.*398G>C
ENST00000696039.1:n.940G>C (ADA)
ENST00000696058.1:c.649G>C (ADA)	ENSP00000512361.1:p.Val217Leu
ENST00000696059.1:c.*597G>C (ADA)	ENSP00000512362.1:n.*597G>C
ENST00000696060.1:c.721G>C (ADA)	ENSP00000512363.1:p.Val241Leu
ENST00000696061.1:c.649G>C (ADA)	ENSP00000512364.1:p.Val217Leu
ENST00000696062.1:c.715G>C (ADA)	ENSP00000512365.1:p.Val239Leu
ENST00000696063.1:c.727G>C (ADA)	ENSP00000512366.1:p.Val243Leu
ENST00000696064.1:c.499G>C (ADA)	ENSP00000512367.1:p.Val167Leu
ENST00000696065.1:c.66-103G>C (ADA)	ENSP00000512368.1:n.66-103G>C
ENST00000696073.1:n.887G>C (ADA)
ENST00000696074.1:n.268G>C (ADA)
ENST00000696075.1:c.*622G>C (ADA)	ENSP00000512374.1:n.*622G>C
ENST00000696076.1:c.721G>C (ADA)	ENSP00000512375.1:p.Val241Leu
ENST00000696077.1:c.646G>C (ADA)	ENSP00000512376.1:p.Val216Leu
ENST00000696078.1:c.649G>C (ADA)	ENSP00000512377.1:p.Val217Leu
ENST00000696079.1:c.649G>C (ADA)	ENSP00000512378.1:p.Val217Leu
ENST00000696080.1:c.652G>C (ADA)	ENSP00000512379.1:p.Val218Leu
ENST00000696081.1:n.771G>C (ADA)
ENST00000696082.1:c.727G>C (ADA)	ENSP00000512380.1:p.Val243Leu
ENST00000696083.1:n.1533G>C (ADA)
ENST00000696084.1:n.753G>C (ADA)
ENST00000696104.1:c.363-103G>C (ADA)	ENSP00000512399.1:n.363-103G>C
ENST00000696105.1:c.*193G>C (ADA)	ENSP00000512400.1:n.*193G>C
ENST00000372874.9:c.652G>C (ADA) MANE Select	ENSP00000361965.4:p.Val218Leu
ENST00000372874.8:c.652G>C (ADA)	ENSP00000361965.4:p.Val218Leu
ENST00000372887.5:c.152-900C>G (PKIG)	ENSP00000361978.1:n.152-900C>G
ENST00000464097.5:n.326G>C (ADA)
ENST00000492931.5:n.736G>C (ADA)
ENST00000536532.5:c.652G>C (ADA)	ENSP00000440946.1:p.Val218Leu
ENST00000537820.1:c.607-103G>C (ADA)	ENSP00000441818.1:n.607-103G>C
ENST00000539235.5:c.*36G>C (ADA)	ENSP00000446464.1:n.*36G>C
NM_000022.2:c.652G>C , LRG_16t1:c.652G>C (ADA)	NP_000013.2:p.Val218Leu
XM_005260236.2:c.607-103G>C (ADA)	XP_005260293.1:n.607-103G>C
XM_011528478.1:c.247G>C (ADA)	XP_011526780.1:p.Val83Leu
XM_011528479.1:c.247G>C (ADA)	XP_011526781.1:p.Val83Leu
XR_244129.1:n.706G>C (ADA)
NM_000022.3:c.652G>C (ADA)	NP_000013.2:p.Val218Leu
NM_001322050.1:c.247G>C (ADA)	NP_001308979.1:p.Val83Leu
NM_001322051.1:c.607-103G>C (ADA)	NP_001308980.1:n.607-103G>C
NR_136160.1:n.803G>C (ADA)
NM_000022.4:c.652G>C (ADA) MANE Select	NP_000013.2:p.Val218Leu
NM_001322050.2:c.247G>C (ADA)	NP_001308979.1:p.Val83Leu
NM_001322051.2:c.607-103G>C (ADA)	NP_001308980.1:n.607-103G>C
NR_136160.2:n.744G>C (ADA)