Canonical Allele Identifier: CA409120861

Gene: ADA

Linked Data

• gnomAD v4: 20-44624263-A-G
• MyVariant Identifiers: chr20:g.43252904A>G (hg19) ; chr20:g.44624263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624263A>G , CM000682.2:g.44624263A>G	GRCh38
NC_000020.10:g.43252904A>G , CM000682.1:g.43252904A>G	GRCh37
NC_000020.9:g.42686318A>G	NCBI36
NG_007385.1:g.32473T>C , LRG_16:g.32473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.636T>C
ENST00000536076.2:c.392T>C	ENSP00000512234.1:p.Leu131Pro
ENST00000536532.6:c.545T>C	ENSP00000440946.1:p.Leu182Pro
ENST00000537820.2:c.545T>C	ENSP00000441818.1:p.Leu182Pro
ENST00000539235.6:c.219-1185T>C	ENSP00000446464.1:n.219-1185T>C
ENST00000695889.1:c.219-1333T>C	ENSP00000512240.1:n.219-1333T>C
ENST00000695890.1:n.2348T>C
ENST00000695891.1:c.219-1333T>C	ENSP00000512241.1:n.219-1333T>C
ENST00000695927.1:c.623T>C	ENSP00000512270.1:p.Leu208Pro
ENST00000695949.1:c.542T>C	ENSP00000512281.1:p.Leu181Pro
ENST00000695957.1:c.*36T>C	ENSP00000512286.1:n.*36T>C
ENST00000695991.1:c.217-1333T>C	ENSP00000512314.1:n.217-1333T>C
ENST00000695992.1:c.545T>C	ENSP00000512315.1:p.Leu182Pro
ENST00000695993.1:c.545T>C	ENSP00000512316.1:p.Leu182Pro
ENST00000695994.1:c.545T>C	ENSP00000512317.1:p.Leu182Pro
ENST00000695995.1:c.217-1185T>C	ENSP00000512318.1:n.217-1185T>C
ENST00000695996.1:n.616T>C
ENST00000695997.1:n.500T>C
ENST00000696003.1:n.637T>C
ENST00000696004.1:n.637T>C
ENST00000696005.1:c.67T>C
ENST00000696006.1:c.545T>C	ENSP00000512325.1:p.Leu182Pro
ENST00000696007.1:c.396T>C	ENSP00000512326.1:n.396T>C
ENST00000696008.1:n.1700T>C
ENST00000696009.1:n.1895T>C
ENST00000696017.1:c.542T>C	ENSP00000512333.1:p.Leu181Pro
ENST00000696034.1:c.545T>C	ENSP00000512343.1:p.Leu182Pro
ENST00000696035.1:n.655T>C
ENST00000696036.1:n.1235T>C
ENST00000696037.1:n.2222T>C
ENST00000696038.1:c.*291T>C	ENSP00000512344.1:n.*291T>C
ENST00000696039.1:n.833T>C
ENST00000696058.1:c.545T>C	ENSP00000512361.1:p.Leu182Pro
ENST00000696059.1:c.*490T>C	ENSP00000512362.1:n.*490T>C
ENST00000696060.1:c.545T>C	ENSP00000512363.1:p.Leu182Pro
ENST00000696061.1:c.542T>C	ENSP00000512364.1:p.Leu181Pro
ENST00000696062.1:c.608T>C	ENSP00000512365.1:p.Leu203Pro
ENST00000696063.1:c.620T>C	ENSP00000512366.1:p.Leu207Pro
ENST00000696064.1:c.392T>C	ENSP00000512367.1:p.Leu131Pro
ENST00000696065.1:c.66-1333T>C	ENSP00000512368.1:n.66-1333T>C
ENST00000696074.1:n.161T>C
ENST00000696075.1:c.*515T>C	ENSP00000512374.1:n.*515T>C
ENST00000696076.1:c.545T>C	ENSP00000512375.1:p.Leu182Pro
ENST00000696077.1:c.542T>C	ENSP00000512376.1:p.Leu181Pro
ENST00000696078.1:c.545T>C	ENSP00000512377.1:p.Leu182Pro
ENST00000696079.1:c.545T>C	ENSP00000512378.1:p.Leu182Pro
ENST00000696080.1:c.545T>C	ENSP00000512379.1:p.Leu182Pro
ENST00000696081.1:n.664T>C
ENST00000696082.1:c.623T>C	ENSP00000512380.1:p.Leu208Pro
ENST00000696083.1:n.1426T>C
ENST00000696084.1:n.646T>C
ENST00000696104.1:c.363-1333T>C	ENSP00000512399.1:n.363-1333T>C
ENST00000696105.1:c.*86T>C	ENSP00000512400.1:n.*86T>C
ENST00000372874.9:c.545T>C MANE Select	ENSP00000361965.4:p.Leu182Pro
ENST00000372874.8:c.545T>C	ENSP00000361965.4:p.Leu182Pro
ENST00000464097.5:n.219T>C
ENST00000492931.5:n.629T>C
ENST00000536532.5:c.545T>C	ENSP00000440946.1:p.Leu182Pro
ENST00000537820.1:c.545T>C	ENSP00000441818.1:p.Leu182Pro
ENST00000539235.5:c.219-1185T>C	ENSP00000446464.1:n.219-1185T>C
NM_000022.2:c.545T>C , LRG_16t1:c.545T>C	NP_000013.2:p.Leu182Pro
XM_005260236.2:c.545T>C	XP_005260293.1:p.Leu182Pro
XM_011528478.1:c.140T>C	XP_011526780.1:p.Leu47Pro
XM_011528479.1:c.140T>C	XP_011526781.1:p.Leu47Pro
XR_244129.1:n.599T>C
NM_000022.3:c.545T>C	NP_000013.2:p.Leu182Pro
NM_001322050.1:c.140T>C	NP_001308979.1:p.Leu47Pro
NM_001322051.1:c.545T>C	NP_001308980.1:p.Leu182Pro
NR_136160.1:n.696T>C
NM_000022.4:c.545T>C MANE Select	NP_000013.2:p.Leu182Pro
NM_001322050.2:c.140T>C	NP_001308979.1:p.Leu47Pro
NM_001322051.2:c.545T>C	NP_001308980.1:p.Leu182Pro
NR_136160.2:n.637T>C