Canonical Allele Identifier: CA409120305

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251544G>T (hg19) ; chr20:g.44622903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622903G>T , CM000682.2:g.44622903G>T	GRCh38
NC_000020.10:g.43251544G>T , CM000682.1:g.43251544G>T	GRCh37
NC_000020.9:g.42684958G>T	NCBI36
NG_007385.1:g.33833C>A , LRG_16:g.33833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.873C>A (ADA)
ENST00000536076.2:c.553C>A (ADA)	ENSP00000512234.1:p.Leu185Met
ENST00000536532.6:c.706C>A (ADA)	ENSP00000440946.1:p.Leu236Met
ENST00000537820.2:c.634C>A (ADA)	ENSP00000441818.1:p.Leu212Met
ENST00000539235.6:c.*90C>A (ADA)	ENSP00000446464.1:n.*90C>A
ENST00000695889.1:c.246C>A (ADA)	ENSP00000512240.1:p.Gly82=
ENST00000695890.1:n.2585C>A (ADA)
ENST00000695891.1:c.246C>A (ADA)	ENSP00000512241.1:p.Gly82=
ENST00000695927.1:c.784C>A (ADA)	ENSP00000512270.1:p.Leu262Met
ENST00000695949.1:c.631C>A (ADA)	ENSP00000512281.1:p.Leu211Met
ENST00000695957.1:c.*197C>A (ADA)	ENSP00000512286.1:n.*197C>A
ENST00000695991.1:c.244C>A (ADA)	ENSP00000512314.1:p.Leu82Met
ENST00000695992.1:c.706C>A (ADA)	ENSP00000512315.1:p.Leu236Met
ENST00000695993.1:c.706C>A (ADA)	ENSP00000512316.1:p.Leu236Met
ENST00000695994.1:c.679C>A (ADA)	ENSP00000512317.1:p.Leu227Met
ENST00000695995.1:c.316C>A (ADA)	ENSP00000512318.1:p.Leu106Met
ENST00000695996.1:n.853C>A (ADA)
ENST00000696003.1:n.874C>A (ADA)
ENST00000696004.1:n.874C>A (ADA)
ENST00000696005.1:c.156C>A (ADA)
ENST00000696006.1:c.634C>A (ADA)	ENSP00000512325.1:p.Leu212Met
ENST00000696007.1:c.633C>A (ADA)	ENSP00000512326.1:n.633C>A
ENST00000696008.1:n.3060C>A (ADA)
ENST00000696017.1:c.703C>A (ADA)	ENSP00000512333.1:p.Leu235Met
ENST00000696034.1:c.706C>A (ADA)	ENSP00000512343.1:p.Leu236Met
ENST00000696035.1:n.892C>A (ADA)
ENST00000696036.1:n.1472C>A (ADA)
ENST00000696037.1:n.2383C>A (ADA)
ENST00000696038.1:c.*528C>A (ADA)	ENSP00000512344.1:n.*528C>A
ENST00000696039.1:n.1070C>A (ADA)
ENST00000696058.1:c.703C>A (ADA)	ENSP00000512361.1:p.Leu235Met
ENST00000696059.1:c.*651C>A (ADA)	ENSP00000512362.1:n.*651C>A
ENST00000696060.1:c.775C>A (ADA)	ENSP00000512363.1:p.Leu259Met
ENST00000696061.1:c.703C>A (ADA)	ENSP00000512364.1:p.Leu235Met
ENST00000696062.1:c.769C>A (ADA)	ENSP00000512365.1:p.Leu257Met
ENST00000696063.1:c.781C>A (ADA)	ENSP00000512366.1:p.Leu261Met
ENST00000696064.1:c.553C>A (ADA)	ENSP00000512367.1:p.Leu185Met
ENST00000696065.1:c.93C>A (ADA)	ENSP00000512368.1:p.Gly31=
ENST00000696073.1:n.1017C>A (ADA)
ENST00000696074.1:n.322C>A (ADA)
ENST00000696075.1:c.*676C>A (ADA)	ENSP00000512374.1:n.*676C>A
ENST00000696076.1:c.775C>A (ADA)	ENSP00000512375.1:p.Leu259Met
ENST00000696077.1:c.700C>A (ADA)	ENSP00000512376.1:p.Leu234Met
ENST00000696078.1:c.703C>A (ADA)	ENSP00000512377.1:p.Leu235Met
ENST00000696079.1:c.703C>A (ADA)	ENSP00000512378.1:p.Leu235Met
ENST00000696080.1:c.706C>A (ADA)	ENSP00000512379.1:p.Leu236Met
ENST00000696081.1:n.825C>A (ADA)
ENST00000696082.1:c.781C>A (ADA)	ENSP00000512380.1:p.Leu261Met
ENST00000696083.1:n.1663C>A (ADA)
ENST00000696084.1:n.883C>A (ADA)
ENST00000696104.1:c.390C>A (ADA)	ENSP00000512399.1:p.Gly130=
ENST00000372874.9:c.706C>A (ADA) MANE Select	ENSP00000361965.4:p.Leu236Met
ENST00000372874.8:c.706C>A (ADA)	ENSP00000361965.4:p.Leu236Met
ENST00000372887.5:c.152-1030G>T (PKIG)	ENSP00000361978.1:n.152-1030G>T
ENST00000464097.5:n.456C>A (ADA)
ENST00000492931.5:n.866C>A (ADA)
ENST00000536532.5:c.706C>A (ADA)	ENSP00000440946.1:p.Leu236Met
ENST00000537820.1:c.634C>A (ADA)	ENSP00000441818.1:p.Leu212Met
ENST00000539235.5:c.*90C>A (ADA)	ENSP00000446464.1:n.*90C>A
NM_000022.2:c.706C>A , LRG_16t1:c.706C>A (ADA)	NP_000013.2:p.Leu236Met
XM_005260236.2:c.634C>A (ADA)	XP_005260293.1:p.Leu212Met
XM_011528478.1:c.301C>A (ADA)	XP_011526780.1:p.Leu101Met
XM_011528479.1:c.301C>A (ADA)	XP_011526781.1:p.Leu101Met
XR_244129.1:n.760C>A (ADA)
NM_000022.3:c.706C>A (ADA)	NP_000013.2:p.Leu236Met
NM_001322050.1:c.301C>A (ADA)	NP_001308979.1:p.Leu101Met
NM_001322051.1:c.634C>A (ADA)	NP_001308980.1:p.Leu212Met
NR_136160.1:n.857C>A (ADA)
NM_000022.4:c.706C>A (ADA) MANE Select	NP_000013.2:p.Leu236Met
NM_001322050.2:c.301C>A (ADA)	NP_001308979.1:p.Leu101Met
NM_001322051.2:c.634C>A (ADA)	NP_001308980.1:p.Leu212Met
NR_136160.2:n.798C>A (ADA)