Canonical Allele Identifier: CA409120847

Gene: ADA

Linked Data

• gnomAD v4: 20-44624255-C-G
• MyVariant Identifiers: chr20:g.43252896C>G (hg19) ; chr20:g.44624255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624255C>G , CM000682.2:g.44624255C>G	GRCh38
NC_000020.10:g.43252896C>G , CM000682.1:g.43252896C>G	GRCh37
NC_000020.9:g.42686310C>G	NCBI36
NG_007385.1:g.32481G>C , LRG_16:g.32481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.644G>C
ENST00000536076.2:c.400G>C	ENSP00000512234.1:p.Asp134His
ENST00000536532.6:c.553G>C	ENSP00000440946.1:p.Asp185His
ENST00000537820.2:c.553G>C	ENSP00000441818.1:p.Asp185His
ENST00000539235.6:c.219-1177G>C	ENSP00000446464.1:n.219-1177G>C
ENST00000695889.1:c.219-1325G>C	ENSP00000512240.1:n.219-1325G>C
ENST00000695890.1:n.2356G>C
ENST00000695891.1:c.219-1325G>C	ENSP00000512241.1:n.219-1325G>C
ENST00000695927.1:c.631G>C	ENSP00000512270.1:p.Asp211His
ENST00000695949.1:c.550G>C	ENSP00000512281.1:p.Asp184His
ENST00000695957.1:c.*44G>C	ENSP00000512286.1:n.*44G>C
ENST00000695991.1:c.217-1325G>C	ENSP00000512314.1:n.217-1325G>C
ENST00000695992.1:c.553G>C	ENSP00000512315.1:p.Asp185His
ENST00000695993.1:c.553G>C	ENSP00000512316.1:p.Asp185His
ENST00000695994.1:c.553G>C	ENSP00000512317.1:p.Asp185His
ENST00000695995.1:c.217-1177G>C	ENSP00000512318.1:n.217-1177G>C
ENST00000695996.1:n.624G>C
ENST00000695997.1:n.508G>C
ENST00000696003.1:n.645G>C
ENST00000696004.1:n.645G>C
ENST00000696005.1:c.75G>C
ENST00000696006.1:c.553G>C	ENSP00000512325.1:p.Asp185His
ENST00000696007.1:c.404G>C	ENSP00000512326.1:n.404G>C
ENST00000696008.1:n.1708G>C
ENST00000696009.1:n.1903G>C
ENST00000696017.1:c.550G>C	ENSP00000512333.1:p.Asp184His
ENST00000696034.1:c.553G>C	ENSP00000512343.1:p.Asp185His
ENST00000696035.1:n.663G>C
ENST00000696036.1:n.1243G>C
ENST00000696037.1:n.2230G>C
ENST00000696038.1:c.*299G>C	ENSP00000512344.1:n.*299G>C
ENST00000696039.1:n.841G>C
ENST00000696058.1:c.553G>C	ENSP00000512361.1:p.Asp185His
ENST00000696059.1:c.*498G>C	ENSP00000512362.1:n.*498G>C
ENST00000696060.1:c.553G>C	ENSP00000512363.1:p.Asp185His
ENST00000696061.1:c.550G>C	ENSP00000512364.1:p.Asp184His
ENST00000696062.1:c.616G>C	ENSP00000512365.1:p.Asp206His
ENST00000696063.1:c.628G>C	ENSP00000512366.1:p.Asp210His
ENST00000696064.1:c.400G>C	ENSP00000512367.1:p.Asp134His
ENST00000696065.1:c.66-1325G>C	ENSP00000512368.1:n.66-1325G>C
ENST00000696074.1:n.169G>C
ENST00000696075.1:c.*523G>C	ENSP00000512374.1:n.*523G>C
ENST00000696076.1:c.553G>C	ENSP00000512375.1:p.Asp185His
ENST00000696077.1:c.550G>C	ENSP00000512376.1:p.Asp184His
ENST00000696078.1:c.553G>C	ENSP00000512377.1:p.Asp185His
ENST00000696079.1:c.553G>C	ENSP00000512378.1:p.Asp185His
ENST00000696080.1:c.553G>C	ENSP00000512379.1:p.Asp185His
ENST00000696081.1:n.672G>C
ENST00000696082.1:c.631G>C	ENSP00000512380.1:p.Asp211His
ENST00000696083.1:n.1434G>C
ENST00000696084.1:n.654G>C
ENST00000696104.1:c.363-1325G>C	ENSP00000512399.1:n.363-1325G>C
ENST00000696105.1:c.*94G>C	ENSP00000512400.1:n.*94G>C
ENST00000372874.9:c.553G>C MANE Select	ENSP00000361965.4:p.Asp185His
ENST00000372874.8:c.553G>C	ENSP00000361965.4:p.Asp185His
ENST00000464097.5:n.227G>C
ENST00000492931.5:n.637G>C
ENST00000536532.5:c.553G>C	ENSP00000440946.1:p.Asp185His
ENST00000537820.1:c.553G>C	ENSP00000441818.1:p.Asp185His
ENST00000539235.5:c.219-1177G>C	ENSP00000446464.1:n.219-1177G>C
NM_000022.2:c.553G>C , LRG_16t1:c.553G>C	NP_000013.2:p.Asp185His
XM_005260236.2:c.553G>C	XP_005260293.1:p.Asp185His
XM_011528478.1:c.148G>C	XP_011526780.1:p.Asp50His
XM_011528479.1:c.148G>C	XP_011526781.1:p.Asp50His
XR_244129.1:n.607G>C
NM_000022.3:c.553G>C	NP_000013.2:p.Asp185His
NM_001322050.1:c.148G>C	NP_001308979.1:p.Asp50His
NM_001322051.1:c.553G>C	NP_001308980.1:p.Asp185His
NR_136160.1:n.704G>C
NM_000022.4:c.553G>C MANE Select	NP_000013.2:p.Asp185His
NM_001322050.2:c.148G>C	NP_001308979.1:p.Asp50His
NM_001322051.2:c.553G>C	NP_001308980.1:p.Asp185His
NR_136160.2:n.645G>C