Canonical Allele Identifier: CA9871675

Gene: ADA

Linked Data

• ClinVar Variation Id: 1107286
• ClinVar RCV Id: RCV001432338
• dbSNP Id: rs374413123
• ExAC: 20:43254256 G / A
• gnomAD v2: 20-43254256-G-A
• gnomAD v3: 20-44625615-G-A
• gnomAD v4: 20-44625615-G-A
• MyVariant Identifiers: chr20:g.43254256G>A (hg19) ; chr20:g.44625615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625615G>A , CM000682.2:g.44625615G>A	GRCh38
NC_000020.10:g.43254256G>A , CM000682.1:g.43254256G>A	GRCh37
NC_000020.9:g.42687670G>A	NCBI36
NG_007385.1:g.31121C>T , LRG_16:g.31121C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.523C>T
ENST00000536076.2:c.279C>T	ENSP00000512234.1:p.Phe93=
ENST00000536532.6:c.432C>T	ENSP00000440946.1:p.Phe144=
ENST00000537820.2:c.432C>T	ENSP00000441818.1:p.Phe144=
ENST00000539235.6:c.219-2537C>T	ENSP00000446464.1:n.219-2537C>T
ENST00000695889.1:c.219-2685C>T	ENSP00000512240.1:n.219-2685C>T
ENST00000695890.1:n.2235C>T
ENST00000695891.1:c.219-2685C>T	ENSP00000512241.1:n.219-2685C>T
ENST00000695927.1:c.510C>T	ENSP00000512270.1:p.Phe170=
ENST00000695949.1:c.429C>T	ENSP00000512281.1:p.Phe143=
ENST00000695957.1:c.362+841C>T	ENSP00000512286.1:n.362+841C>T
ENST00000695991.1:c.217-2685C>T	ENSP00000512314.1:n.217-2685C>T
ENST00000695992.1:c.432C>T	ENSP00000512315.1:p.Phe144=
ENST00000695993.1:c.432C>T	ENSP00000512316.1:p.Phe144=
ENST00000695994.1:c.432C>T	ENSP00000512317.1:p.Phe144=
ENST00000695995.1:c.217-2537C>T	ENSP00000512318.1:n.217-2537C>T
ENST00000695996.1:n.503C>T
ENST00000695997.1:n.433+841C>T
ENST00000696003.1:n.524C>T
ENST00000696004.1:n.524C>T
ENST00000696006.1:c.432C>T	ENSP00000512325.1:p.Phe144=
ENST00000696007.1:c.329+841C>T	ENSP00000512326.1:n.329+841C>T
ENST00000696008.1:n.348C>T
ENST00000696009.1:n.543C>T
ENST00000696017.1:c.429C>T	ENSP00000512333.1:p.Phe143=
ENST00000696034.1:c.432C>T	ENSP00000512343.1:p.Phe144=
ENST00000696035.1:n.542C>T
ENST00000696036.1:n.1122C>T
ENST00000696037.1:n.2109C>T
ENST00000696038.1:c.*178C>T	ENSP00000512344.1:n.*178C>T
ENST00000696039.1:n.720C>T
ENST00000696058.1:c.432C>T	ENSP00000512361.1:p.Phe144=
ENST00000696059.1:c.*377C>T	ENSP00000512362.1:n.*377C>T
ENST00000696060.1:c.432C>T	ENSP00000512363.1:p.Phe144=
ENST00000696061.1:c.429C>T	ENSP00000512364.1:p.Phe143=
ENST00000696062.1:c.495C>T	ENSP00000512365.1:p.Phe165=
ENST00000696063.1:c.507C>T	ENSP00000512366.1:p.Phe169=
ENST00000696064.1:c.279C>T	ENSP00000512367.1:p.Phe93=
ENST00000696065.1:c.66-2685C>T	ENSP00000512368.1:n.66-2685C>T
ENST00000696075.1:c.*402C>T	ENSP00000512374.1:n.*402C>T
ENST00000696076.1:c.432C>T	ENSP00000512375.1:p.Phe144=
ENST00000696077.1:c.429C>T	ENSP00000512376.1:p.Phe143=
ENST00000696078.1:c.432C>T	ENSP00000512377.1:p.Phe144=
ENST00000696079.1:c.432C>T	ENSP00000512378.1:p.Phe144=
ENST00000696080.1:c.432C>T	ENSP00000512379.1:p.Phe144=
ENST00000696082.1:c.510C>T	ENSP00000512380.1:p.Phe170=
ENST00000696083.1:n.74C>T
ENST00000696084.1:n.533C>T
ENST00000696104.1:c.362+841C>T	ENSP00000512399.1:n.362+841C>T
ENST00000696105.1:c.432C>T	ENSP00000512400.1:p.Phe144=
ENST00000372874.9:c.432C>T MANE Select	ENSP00000361965.4:p.Phe144=
ENST00000372874.8:c.432C>T	ENSP00000361965.4:p.Phe144=
ENST00000464097.5:n.106C>T
ENST00000492931.5:n.516C>T
ENST00000536532.5:c.432C>T	ENSP00000440946.1:p.Phe144=
ENST00000537820.1:c.432C>T	ENSP00000441818.1:p.Phe144=
ENST00000539235.5:c.219-2537C>T	ENSP00000446464.1:n.219-2537C>T
NM_000022.2:c.432C>T , LRG_16t1:c.432C>T	NP_000013.2:p.Phe144=
XM_005260236.2:c.432C>T	XP_005260293.1:p.Phe144=
XM_011528478.1:c.73+841C>T	XP_011526780.1:n.73+841C>T
XM_011528479.1:c.73+841C>T	XP_011526781.1:n.73+841C>T
XR_244129.1:n.486C>T
NM_000022.3:c.432C>T	NP_000013.2:p.Phe144=
NM_001322050.1:c.73+841C>T	NP_001308979.1:n.73+841C>T
NM_001322051.1:c.432C>T	NP_001308980.1:p.Phe144=
NR_136160.1:n.583C>T
NM_000022.4:c.432C>T MANE Select	NP_000013.2:p.Phe144=
NM_001322050.2:c.73+841C>T	NP_001308979.1:n.73+841C>T
NM_001322051.2:c.432C>T	NP_001308980.1:p.Phe144=
NR_136160.2:n.524C>T