Canonical Allele Identifier: CA409121007

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43252970T>G (hg19) ; chr20:g.44624329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624329T>G , CM000682.2:g.44624329T>G	GRCh38
NC_000020.10:g.43252970T>G , CM000682.1:g.43252970T>G	GRCh37
NC_000020.9:g.42686384T>G	NCBI36
NG_007385.1:g.32407A>C , LRG_16:g.32407A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.570A>C
ENST00000536076.2:c.326A>C	ENSP00000512234.1:p.Asn109Thr
ENST00000536532.6:c.479A>C	ENSP00000440946.1:p.Asn160Thr
ENST00000537820.2:c.479A>C	ENSP00000441818.1:p.Asn160Thr
ENST00000539235.6:c.219-1251A>C	ENSP00000446464.1:n.219-1251A>C
ENST00000695889.1:c.219-1399A>C	ENSP00000512240.1:n.219-1399A>C
ENST00000695890.1:n.2282A>C
ENST00000695891.1:c.219-1399A>C	ENSP00000512241.1:n.219-1399A>C
ENST00000695927.1:c.557A>C	ENSP00000512270.1:p.Asn186Thr
ENST00000695949.1:c.476A>C	ENSP00000512281.1:p.Asn159Thr
ENST00000695957.1:c.363A>C	ENSP00000512286.1:p.Glu121Asp
ENST00000695991.1:c.217-1399A>C	ENSP00000512314.1:n.217-1399A>C
ENST00000695992.1:c.479A>C	ENSP00000512315.1:p.Asn160Thr
ENST00000695993.1:c.479A>C	ENSP00000512316.1:p.Asn160Thr
ENST00000695994.1:c.479A>C	ENSP00000512317.1:p.Asn160Thr
ENST00000695995.1:c.217-1251A>C	ENSP00000512318.1:n.217-1251A>C
ENST00000695996.1:n.550A>C
ENST00000695997.1:n.434A>C
ENST00000696003.1:n.571A>C
ENST00000696004.1:n.571A>C
ENST00000696005.1:c.1A>C
ENST00000696006.1:c.479A>C	ENSP00000512325.1:p.Asn160Thr
ENST00000696007.1:c.330A>C	ENSP00000512326.1:p.Glu110Asp
ENST00000696008.1:n.1634A>C
ENST00000696009.1:n.1829A>C
ENST00000696017.1:c.476A>C	ENSP00000512333.1:p.Asn159Thr
ENST00000696034.1:c.479A>C	ENSP00000512343.1:p.Asn160Thr
ENST00000696035.1:n.589A>C
ENST00000696036.1:n.1169A>C
ENST00000696037.1:n.2156A>C
ENST00000696038.1:c.*225A>C	ENSP00000512344.1:n.*225A>C
ENST00000696039.1:n.767A>C
ENST00000696058.1:c.479A>C	ENSP00000512361.1:p.Asn160Thr
ENST00000696059.1:c.*424A>C	ENSP00000512362.1:n.*424A>C
ENST00000696060.1:c.479A>C	ENSP00000512363.1:p.Asn160Thr
ENST00000696061.1:c.476A>C	ENSP00000512364.1:p.Asn159Thr
ENST00000696062.1:c.542A>C	ENSP00000512365.1:p.Asn181Thr
ENST00000696063.1:c.554A>C	ENSP00000512366.1:p.Asn185Thr
ENST00000696064.1:c.326A>C	ENSP00000512367.1:p.Asn109Thr
ENST00000696065.1:c.66-1399A>C	ENSP00000512368.1:n.66-1399A>C
ENST00000696074.1:n.95A>C
ENST00000696075.1:c.*449A>C	ENSP00000512374.1:n.*449A>C
ENST00000696076.1:c.479A>C	ENSP00000512375.1:p.Asn160Thr
ENST00000696077.1:c.476A>C	ENSP00000512376.1:p.Asn159Thr
ENST00000696078.1:c.479A>C	ENSP00000512377.1:p.Asn160Thr
ENST00000696079.1:c.479A>C	ENSP00000512378.1:p.Asn160Thr
ENST00000696080.1:c.479A>C	ENSP00000512379.1:p.Asn160Thr
ENST00000696081.1:n.598A>C
ENST00000696082.1:c.557A>C	ENSP00000512380.1:p.Asn186Thr
ENST00000696083.1:n.1360A>C
ENST00000696084.1:n.580A>C
ENST00000696104.1:c.363-1399A>C	ENSP00000512399.1:n.363-1399A>C
ENST00000696105.1:c.*20A>C	ENSP00000512400.1:n.*20A>C
ENST00000372874.9:c.479A>C MANE Select	ENSP00000361965.4:p.Asn160Thr
ENST00000372874.8:c.479A>C	ENSP00000361965.4:p.Asn160Thr
ENST00000464097.5:n.153A>C
ENST00000492931.5:n.563A>C
ENST00000536532.5:c.479A>C	ENSP00000440946.1:p.Asn160Thr
ENST00000537820.1:c.479A>C	ENSP00000441818.1:p.Asn160Thr
ENST00000539235.5:c.219-1251A>C	ENSP00000446464.1:n.219-1251A>C
NM_000022.2:c.479A>C , LRG_16t1:c.479A>C	NP_000013.2:p.Asn160Thr
XM_005260236.2:c.479A>C	XP_005260293.1:p.Asn160Thr
XM_011528478.1:c.74A>C	XP_011526780.1:p.Asn25Thr
XM_011528479.1:c.74A>C	XP_011526781.1:p.Asn25Thr
XR_244129.1:n.533A>C
NM_000022.3:c.479A>C	NP_000013.2:p.Asn160Thr
NM_001322050.1:c.74A>C	NP_001308979.1:p.Asn25Thr
NM_001322051.1:c.479A>C	NP_001308980.1:p.Asn160Thr
NR_136160.1:n.630A>C
NM_000022.4:c.479A>C MANE Select	NP_000013.2:p.Asn160Thr
NM_001322050.2:c.74A>C	NP_001308979.1:p.Asn25Thr
NM_001322051.2:c.479A>C	NP_001308980.1:p.Asn160Thr
NR_136160.2:n.571A>C