Canonical Allele Identifier: CA409121003

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43252969G>C (hg19) ; chr20:g.44624328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624328G>C , CM000682.2:g.44624328G>C	GRCh38
NC_000020.10:g.43252969G>C , CM000682.1:g.43252969G>C	GRCh37
NC_000020.9:g.42686383G>C	NCBI36
NG_007385.1:g.32408C>G , LRG_16:g.32408C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.571C>G
ENST00000536076.2:c.327C>G	ENSP00000512234.1:p.Asn109Lys
ENST00000536532.6:c.480C>G	ENSP00000440946.1:p.Asn160Lys
ENST00000537820.2:c.480C>G	ENSP00000441818.1:p.Asn160Lys
ENST00000539235.6:c.219-1250C>G	ENSP00000446464.1:n.219-1250C>G
ENST00000695889.1:c.219-1398C>G	ENSP00000512240.1:n.219-1398C>G
ENST00000695890.1:n.2283C>G
ENST00000695891.1:c.219-1398C>G	ENSP00000512241.1:n.219-1398C>G
ENST00000695927.1:c.558C>G	ENSP00000512270.1:p.Asn186Lys
ENST00000695949.1:c.477C>G	ENSP00000512281.1:p.Asn159Lys
ENST00000695957.1:c.364C>G	ENSP00000512286.1:p.Leu122Val
ENST00000695991.1:c.217-1398C>G	ENSP00000512314.1:n.217-1398C>G
ENST00000695992.1:c.480C>G	ENSP00000512315.1:p.Asn160Lys
ENST00000695993.1:c.480C>G	ENSP00000512316.1:p.Asn160Lys
ENST00000695994.1:c.480C>G	ENSP00000512317.1:p.Asn160Lys
ENST00000695995.1:c.217-1250C>G	ENSP00000512318.1:n.217-1250C>G
ENST00000695996.1:n.551C>G
ENST00000695997.1:n.435C>G
ENST00000696003.1:n.572C>G
ENST00000696004.1:n.572C>G
ENST00000696005.1:c.2C>G
ENST00000696006.1:c.480C>G	ENSP00000512325.1:p.Asn160Lys
ENST00000696007.1:c.331C>G	ENSP00000512326.1:p.Leu111Val
ENST00000696008.1:n.1635C>G
ENST00000696009.1:n.1830C>G
ENST00000696017.1:c.477C>G	ENSP00000512333.1:p.Asn159Lys
ENST00000696034.1:c.480C>G	ENSP00000512343.1:p.Asn160Lys
ENST00000696035.1:n.590C>G
ENST00000696036.1:n.1170C>G
ENST00000696037.1:n.2157C>G
ENST00000696038.1:c.*226C>G	ENSP00000512344.1:n.*226C>G
ENST00000696039.1:n.768C>G
ENST00000696058.1:c.480C>G	ENSP00000512361.1:p.Asn160Lys
ENST00000696059.1:c.*425C>G	ENSP00000512362.1:n.*425C>G
ENST00000696060.1:c.480C>G	ENSP00000512363.1:p.Asn160Lys
ENST00000696061.1:c.477C>G	ENSP00000512364.1:p.Asn159Lys
ENST00000696062.1:c.543C>G	ENSP00000512365.1:p.Asn181Lys
ENST00000696063.1:c.555C>G	ENSP00000512366.1:p.Asn185Lys
ENST00000696064.1:c.327C>G	ENSP00000512367.1:p.Asn109Lys
ENST00000696065.1:c.66-1398C>G	ENSP00000512368.1:n.66-1398C>G
ENST00000696074.1:n.96C>G
ENST00000696075.1:c.*450C>G	ENSP00000512374.1:n.*450C>G
ENST00000696076.1:c.480C>G	ENSP00000512375.1:p.Asn160Lys
ENST00000696077.1:c.477C>G	ENSP00000512376.1:p.Asn159Lys
ENST00000696078.1:c.480C>G	ENSP00000512377.1:p.Asn160Lys
ENST00000696079.1:c.480C>G	ENSP00000512378.1:p.Asn160Lys
ENST00000696080.1:c.480C>G	ENSP00000512379.1:p.Asn160Lys
ENST00000696081.1:n.599C>G
ENST00000696082.1:c.558C>G	ENSP00000512380.1:p.Asn186Lys
ENST00000696083.1:n.1361C>G
ENST00000696084.1:n.581C>G
ENST00000696104.1:c.363-1398C>G	ENSP00000512399.1:n.363-1398C>G
ENST00000696105.1:c.*21C>G	ENSP00000512400.1:n.*21C>G
ENST00000372874.9:c.480C>G MANE Select	ENSP00000361965.4:p.Asn160Lys
ENST00000372874.8:c.480C>G	ENSP00000361965.4:p.Asn160Lys
ENST00000464097.5:n.154C>G
ENST00000492931.5:n.564C>G
ENST00000536532.5:c.480C>G	ENSP00000440946.1:p.Asn160Lys
ENST00000537820.1:c.480C>G	ENSP00000441818.1:p.Asn160Lys
ENST00000539235.5:c.219-1250C>G	ENSP00000446464.1:n.219-1250C>G
NM_000022.2:c.480C>G , LRG_16t1:c.480C>G	NP_000013.2:p.Asn160Lys
XM_005260236.2:c.480C>G	XP_005260293.1:p.Asn160Lys
XM_011528478.1:c.75C>G	XP_011526780.1:p.Asn25Lys
XM_011528479.1:c.75C>G	XP_011526781.1:p.Asn25Lys
XR_244129.1:n.534C>G
NM_000022.3:c.480C>G	NP_000013.2:p.Asn160Lys
NM_001322050.1:c.75C>G	NP_001308979.1:p.Asn25Lys
NM_001322051.1:c.480C>G	NP_001308980.1:p.Asn160Lys
NR_136160.1:n.631C>G
NM_000022.4:c.480C>G MANE Select	NP_000013.2:p.Asn160Lys
NM_001322050.2:c.75C>G	NP_001308979.1:p.Asn25Lys
NM_001322051.2:c.480C>G	NP_001308980.1:p.Asn160Lys
NR_136160.2:n.572C>G