Canonical Allele Identifier: CA409120791

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43252872G>A (hg19) ; chr20:g.44624231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624231G>A , CM000682.2:g.44624231G>A	GRCh38
NC_000020.10:g.43252872G>A , CM000682.1:g.43252872G>A	GRCh37
NC_000020.9:g.42686286G>A	NCBI36
NG_007385.1:g.32505C>T , LRG_16:g.32505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.668C>T (ADA)
ENST00000536076.2:c.424C>T (ADA)	ENSP00000512234.1:p.Leu142Phe
ENST00000536532.6:c.577C>T (ADA)	ENSP00000440946.1:p.Leu193Phe
ENST00000537820.2:c.577C>T (ADA)	ENSP00000441818.1:p.Leu193Phe
ENST00000539235.6:c.219-1153C>T (ADA)	ENSP00000446464.1:n.219-1153C>T
ENST00000695889.1:c.219-1301C>T (ADA)	ENSP00000512240.1:n.219-1301C>T
ENST00000695890.1:n.2380C>T (ADA)
ENST00000695891.1:c.219-1301C>T (ADA)	ENSP00000512241.1:n.219-1301C>T
ENST00000695927.1:c.655C>T (ADA)	ENSP00000512270.1:p.Leu219Phe
ENST00000695949.1:c.574C>T (ADA)	ENSP00000512281.1:p.Leu192Phe
ENST00000695957.1:c.*68C>T (ADA)	ENSP00000512286.1:n.*68C>T
ENST00000695991.1:c.217-1301C>T (ADA)	ENSP00000512314.1:n.217-1301C>T
ENST00000695992.1:c.577C>T (ADA)	ENSP00000512315.1:p.Leu193Phe
ENST00000695993.1:c.577C>T (ADA)	ENSP00000512316.1:p.Leu193Phe
ENST00000695994.1:c.577C>T (ADA)	ENSP00000512317.1:p.Leu193Phe
ENST00000695995.1:c.217-1153C>T (ADA)	ENSP00000512318.1:n.217-1153C>T
ENST00000695996.1:n.648C>T (ADA)
ENST00000695997.1:n.532C>T (ADA)
ENST00000696003.1:n.669C>T (ADA)
ENST00000696004.1:n.669C>T (ADA)
ENST00000696005.1:c.99C>T (ADA)
ENST00000696006.1:c.577C>T (ADA)	ENSP00000512325.1:p.Leu193Phe
ENST00000696007.1:c.428C>T (ADA)	ENSP00000512326.1:n.428C>T
ENST00000696008.1:n.1732C>T (ADA)
ENST00000696009.1:n.1927C>T (ADA)
ENST00000696017.1:c.574C>T (ADA)	ENSP00000512333.1:p.Leu192Phe
ENST00000696034.1:c.577C>T (ADA)	ENSP00000512343.1:p.Leu193Phe
ENST00000696035.1:n.687C>T (ADA)
ENST00000696036.1:n.1267C>T (ADA)
ENST00000696037.1:n.2254C>T (ADA)
ENST00000696038.1:c.*323C>T (ADA)	ENSP00000512344.1:n.*323C>T
ENST00000696039.1:n.865C>T (ADA)
ENST00000696058.1:c.577C>T (ADA)	ENSP00000512361.1:p.Leu193Phe
ENST00000696059.1:c.*522C>T (ADA)	ENSP00000512362.1:n.*522C>T
ENST00000696060.1:c.577C>T (ADA)	ENSP00000512363.1:p.Leu193Phe
ENST00000696061.1:c.574C>T (ADA)	ENSP00000512364.1:p.Leu192Phe
ENST00000696062.1:c.640C>T (ADA)	ENSP00000512365.1:p.Leu214Phe
ENST00000696063.1:c.652C>T (ADA)	ENSP00000512366.1:p.Leu218Phe
ENST00000696064.1:c.424C>T (ADA)	ENSP00000512367.1:p.Leu142Phe
ENST00000696065.1:c.66-1301C>T (ADA)	ENSP00000512368.1:n.66-1301C>T
ENST00000696074.1:n.193C>T (ADA)
ENST00000696075.1:c.*547C>T (ADA)	ENSP00000512374.1:n.*547C>T
ENST00000696076.1:c.577C>T (ADA)	ENSP00000512375.1:p.Leu193Phe
ENST00000696077.1:c.574C>T (ADA)	ENSP00000512376.1:p.Leu192Phe
ENST00000696078.1:c.577C>T (ADA)	ENSP00000512377.1:p.Leu193Phe
ENST00000696079.1:c.577C>T (ADA)	ENSP00000512378.1:p.Leu193Phe
ENST00000696080.1:c.577C>T (ADA)	ENSP00000512379.1:p.Leu193Phe
ENST00000696081.1:n.696C>T (ADA)
ENST00000696082.1:c.655C>T (ADA)	ENSP00000512380.1:p.Leu219Phe
ENST00000696083.1:n.1458C>T (ADA)
ENST00000696084.1:n.678C>T (ADA)
ENST00000696104.1:c.363-1301C>T (ADA)	ENSP00000512399.1:n.363-1301C>T
ENST00000696105.1:c.*118C>T (ADA)	ENSP00000512400.1:n.*118C>T
ENST00000372874.9:c.577C>T (ADA) MANE Select	ENSP00000361965.4:p.Leu193Phe
ENST00000372874.8:c.577C>T (ADA)	ENSP00000361965.4:p.Leu193Phe
ENST00000372887.5:c.*255G>A (PKIG)	ENSP00000361978.1:n.*255G>A
ENST00000464097.5:n.251C>T (ADA)
ENST00000492931.5:n.661C>T (ADA)
ENST00000536532.5:c.577C>T (ADA)	ENSP00000440946.1:p.Leu193Phe
ENST00000537820.1:c.577C>T (ADA)	ENSP00000441818.1:p.Leu193Phe
ENST00000539235.5:c.219-1153C>T (ADA)	ENSP00000446464.1:n.219-1153C>T
NM_000022.2:c.577C>T , LRG_16t1:c.577C>T (ADA)	NP_000013.2:p.Leu193Phe
XM_005260236.2:c.577C>T (ADA)	XP_005260293.1:p.Leu193Phe
XM_011528478.1:c.172C>T (ADA)	XP_011526780.1:p.Leu58Phe
XM_011528479.1:c.172C>T (ADA)	XP_011526781.1:p.Leu58Phe
XR_244129.1:n.631C>T (ADA)
NM_000022.3:c.577C>T (ADA)	NP_000013.2:p.Leu193Phe
NM_001322050.1:c.172C>T (ADA)	NP_001308979.1:p.Leu58Phe
NM_001322051.1:c.577C>T (ADA)	NP_001308980.1:p.Leu193Phe
NR_136160.1:n.728C>T (ADA)
NM_000022.4:c.577C>T (ADA) MANE Select	NP_000013.2:p.Leu193Phe
NM_001322050.2:c.172C>T (ADA)	NP_001308979.1:p.Leu58Phe
NM_001322051.2:c.577C>T (ADA)	NP_001308980.1:p.Leu193Phe
NR_136160.2:n.669C>T (ADA)