Canonical Allele Identifier: CA510593790

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43252951C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624310C>A , CM000682.2:g.44624310C>A	GRCh38
NC_000020.10:g.43252951C>A , CM000682.1:g.43252951C>A	GRCh37
NC_000020.9:g.42686365C>A	NCBI36
NG_007385.1:g.32426G>T , LRG_16:g.32426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.589G>T
ENST00000536076.2:c.345G>T	ENSP00000512234.1:p.Val115=
ENST00000536532.6:c.498G>T	ENSP00000440946.1:p.Val166=
ENST00000537820.2:c.498G>T	ENSP00000441818.1:p.Val166=
ENST00000539235.6:c.219-1232G>T	ENSP00000446464.1:n.219-1232G>T
ENST00000695889.1:c.219-1380G>T	ENSP00000512240.1:n.219-1380G>T
ENST00000695890.1:n.2301G>T
ENST00000695891.1:c.219-1380G>T	ENSP00000512241.1:n.219-1380G>T
ENST00000695927.1:c.576G>T	ENSP00000512270.1:p.Val192=
ENST00000695949.1:c.495G>T	ENSP00000512281.1:p.Val165=
ENST00000695957.1:c.382G>T	ENSP00000512286.1:p.Gly128Ter
ENST00000695991.1:c.217-1380G>T	ENSP00000512314.1:n.217-1380G>T
ENST00000695992.1:c.498G>T	ENSP00000512315.1:p.Val166=
ENST00000695993.1:c.498G>T	ENSP00000512316.1:p.Val166=
ENST00000695994.1:c.498G>T	ENSP00000512317.1:p.Val166=
ENST00000695995.1:c.217-1232G>T	ENSP00000512318.1:n.217-1232G>T
ENST00000695996.1:n.569G>T
ENST00000695997.1:n.453G>T
ENST00000696003.1:n.590G>T
ENST00000696004.1:n.590G>T
ENST00000696005.1:c.20G>T
ENST00000696006.1:c.498G>T	ENSP00000512325.1:p.Val166=
ENST00000696007.1:c.349G>T	ENSP00000512326.1:p.Gly117Ter
ENST00000696008.1:n.1653G>T
ENST00000696009.1:n.1848G>T
ENST00000696017.1:c.495G>T	ENSP00000512333.1:p.Val165=
ENST00000696034.1:c.498G>T	ENSP00000512343.1:p.Val166=
ENST00000696035.1:n.608G>T
ENST00000696036.1:n.1188G>T
ENST00000696037.1:n.2175G>T
ENST00000696038.1:c.*244G>T	ENSP00000512344.1:n.*244G>T
ENST00000696039.1:n.786G>T
ENST00000696058.1:c.498G>T	ENSP00000512361.1:p.Val166=
ENST00000696059.1:c.*443G>T	ENSP00000512362.1:n.*443G>T
ENST00000696060.1:c.498G>T	ENSP00000512363.1:p.Val166=
ENST00000696061.1:c.495G>T	ENSP00000512364.1:p.Val165=
ENST00000696062.1:c.561G>T	ENSP00000512365.1:p.Val187=
ENST00000696063.1:c.573G>T	ENSP00000512366.1:p.Val191=
ENST00000696064.1:c.345G>T	ENSP00000512367.1:p.Val115=
ENST00000696065.1:c.66-1380G>T	ENSP00000512368.1:n.66-1380G>T
ENST00000696074.1:n.114G>T
ENST00000696075.1:c.*468G>T	ENSP00000512374.1:n.*468G>T
ENST00000696076.1:c.498G>T	ENSP00000512375.1:p.Val166=
ENST00000696077.1:c.495G>T	ENSP00000512376.1:p.Val165=
ENST00000696078.1:c.498G>T	ENSP00000512377.1:p.Val166=
ENST00000696079.1:c.498G>T	ENSP00000512378.1:p.Val166=
ENST00000696080.1:c.498G>T	ENSP00000512379.1:p.Val166=
ENST00000696081.1:n.617G>T
ENST00000696082.1:c.576G>T	ENSP00000512380.1:p.Val192=
ENST00000696083.1:n.1379G>T
ENST00000696084.1:n.599G>T
ENST00000696104.1:c.363-1380G>T	ENSP00000512399.1:n.363-1380G>T
ENST00000696105.1:c.*39G>T	ENSP00000512400.1:n.*39G>T
ENST00000372874.9:c.498G>T MANE Select	ENSP00000361965.4:p.Val166=
ENST00000372874.8:c.498G>T	ENSP00000361965.4:p.Val166=
ENST00000464097.5:n.172G>T
ENST00000492931.5:n.582G>T
ENST00000536532.5:c.498G>T	ENSP00000440946.1:p.Val166=
ENST00000537820.1:c.498G>T	ENSP00000441818.1:p.Val166=
ENST00000539235.5:c.219-1232G>T	ENSP00000446464.1:n.219-1232G>T
NM_000022.2:c.498G>T , LRG_16t1:c.498G>T	NP_000013.2:p.Val166=
XM_005260236.2:c.498G>T	XP_005260293.1:p.Val166=
XM_011528478.1:c.93G>T	XP_011526780.1:p.Val31=
XM_011528479.1:c.93G>T	XP_011526781.1:p.Val31=
XR_244129.1:n.552G>T
NM_000022.3:c.498G>T	NP_000013.2:p.Val166=
NM_001322050.1:c.93G>T	NP_001308979.1:p.Val31=
NM_001322051.1:c.498G>T	NP_001308980.1:p.Val166=
NR_136160.1:n.649G>T
NM_000022.4:c.498G>T MANE Select	NP_000013.2:p.Val166=
NM_001322050.2:c.93G>T	NP_001308979.1:p.Val31=
NM_001322051.2:c.498G>T	NP_001308980.1:p.Val166=
NR_136160.2:n.590G>T