Canonical Allele Identifier: CA510593935

Gene: ADA

Linked Data

• dbSNP Id: rs1332390577
• gnomAD v2: 20-43254238-G-T
• gnomAD v4: 20-44625597-G-T
• MyVariant Identifiers: chr20:g.43254238G>T (hg19) ; chr20:g.44625597G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625597G>T , CM000682.2:g.44625597G>T	GRCh38
NC_000020.10:g.43254238G>T , CM000682.1:g.43254238G>T	GRCh37
NC_000020.9:g.42687652G>T	NCBI36
NG_007385.1:g.31139C>A , LRG_16:g.31139C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.541C>A
ENST00000536076.2:c.297C>A	ENSP00000512234.1:p.Ser99=
ENST00000536532.6:c.450C>A	ENSP00000440946.1:p.Ser150=
ENST00000537820.2:c.450C>A	ENSP00000441818.1:p.Ser150=
ENST00000539235.6:c.219-2519C>A	ENSP00000446464.1:n.219-2519C>A
ENST00000695889.1:c.219-2667C>A	ENSP00000512240.1:n.219-2667C>A
ENST00000695890.1:n.2253C>A
ENST00000695891.1:c.219-2667C>A	ENSP00000512241.1:n.219-2667C>A
ENST00000695927.1:c.528C>A	ENSP00000512270.1:p.Ser176=
ENST00000695949.1:c.447C>A	ENSP00000512281.1:p.Ser149=
ENST00000695957.1:c.362+859C>A	ENSP00000512286.1:n.362+859C>A
ENST00000695991.1:c.217-2667C>A	ENSP00000512314.1:n.217-2667C>A
ENST00000695992.1:c.450C>A	ENSP00000512315.1:p.Ser150=
ENST00000695993.1:c.450C>A	ENSP00000512316.1:p.Ser150=
ENST00000695994.1:c.450C>A	ENSP00000512317.1:p.Ser150=
ENST00000695995.1:c.217-2519C>A	ENSP00000512318.1:n.217-2519C>A
ENST00000695996.1:n.521C>A
ENST00000695997.1:n.433+859C>A
ENST00000696003.1:n.542C>A
ENST00000696004.1:n.542C>A
ENST00000696006.1:c.450C>A	ENSP00000512325.1:p.Ser150=
ENST00000696007.1:c.329+859C>A	ENSP00000512326.1:n.329+859C>A
ENST00000696008.1:n.366C>A
ENST00000696009.1:n.561C>A
ENST00000696017.1:c.447C>A	ENSP00000512333.1:p.Ser149=
ENST00000696034.1:c.450C>A	ENSP00000512343.1:p.Ser150=
ENST00000696035.1:n.560C>A
ENST00000696036.1:n.1140C>A
ENST00000696037.1:n.2127C>A
ENST00000696038.1:c.*196C>A	ENSP00000512344.1:n.*196C>A
ENST00000696039.1:n.738C>A
ENST00000696058.1:c.450C>A	ENSP00000512361.1:p.Ser150=
ENST00000696059.1:c.*395C>A	ENSP00000512362.1:n.*395C>A
ENST00000696060.1:c.450C>A	ENSP00000512363.1:p.Ser150=
ENST00000696061.1:c.447C>A	ENSP00000512364.1:p.Ser149=
ENST00000696062.1:c.513C>A	ENSP00000512365.1:p.Ser171=
ENST00000696063.1:c.525C>A	ENSP00000512366.1:p.Ser175=
ENST00000696064.1:c.297C>A	ENSP00000512367.1:p.Ser99=
ENST00000696065.1:c.66-2667C>A	ENSP00000512368.1:n.66-2667C>A
ENST00000696075.1:c.*420C>A	ENSP00000512374.1:n.*420C>A
ENST00000696076.1:c.450C>A	ENSP00000512375.1:p.Ser150=
ENST00000696077.1:c.447C>A	ENSP00000512376.1:p.Ser149=
ENST00000696078.1:c.450C>A	ENSP00000512377.1:p.Ser150=
ENST00000696079.1:c.450C>A	ENSP00000512378.1:p.Ser150=
ENST00000696080.1:c.450C>A	ENSP00000512379.1:p.Ser150=
ENST00000696082.1:c.528C>A	ENSP00000512380.1:p.Ser176=
ENST00000696083.1:n.92C>A
ENST00000696084.1:n.551C>A
ENST00000696104.1:c.362+859C>A	ENSP00000512399.1:n.362+859C>A
ENST00000696105.1:c.450C>A	ENSP00000512400.1:p.Ser150=
ENST00000372874.9:c.450C>A MANE Select	ENSP00000361965.4:p.Ser150=
ENST00000372874.8:c.450C>A	ENSP00000361965.4:p.Ser150=
ENST00000464097.5:n.124C>A
ENST00000492931.5:n.534C>A
ENST00000536532.5:c.450C>A	ENSP00000440946.1:p.Ser150=
ENST00000537820.1:c.450C>A	ENSP00000441818.1:p.Ser150=
ENST00000539235.5:c.219-2519C>A	ENSP00000446464.1:n.219-2519C>A
NM_000022.2:c.450C>A , LRG_16t1:c.450C>A	NP_000013.2:p.Ser150=
XM_005260236.2:c.450C>A	XP_005260293.1:p.Ser150=
XM_011528478.1:c.73+859C>A	XP_011526780.1:n.73+859C>A
XM_011528479.1:c.73+859C>A	XP_011526781.1:n.73+859C>A
XR_244129.1:n.504C>A
NM_000022.3:c.450C>A	NP_000013.2:p.Ser150=
NM_001322050.1:c.73+859C>A	NP_001308979.1:n.73+859C>A
NM_001322051.1:c.450C>A	NP_001308980.1:p.Ser150=
NR_136160.1:n.601C>A
NM_000022.4:c.450C>A MANE Select	NP_000013.2:p.Ser150=
NM_001322050.2:c.73+859C>A	NP_001308979.1:n.73+859C>A
NM_001322051.2:c.450C>A	NP_001308980.1:p.Ser150=
NR_136160.2:n.542C>A