Canonical Allele Identifier: CA409120827

Gene: ADA

Linked Data

• ClinVar Variation Id: 2531678
• ClinVar RCV Id: RCV003249980
• gnomAD v4: 20-44624248-G-A
• MyVariant Identifiers: chr20:g.43252889G>A (hg19) ; chr20:g.44624248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624248G>A , CM000682.2:g.44624248G>A	GRCh38
NC_000020.10:g.43252889G>A , CM000682.1:g.43252889G>A	GRCh37
NC_000020.9:g.42686303G>A	NCBI36
NG_007385.1:g.32488C>T , LRG_16:g.32488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.651C>T
ENST00000536076.2:c.407C>T	ENSP00000512234.1:p.Thr136Ile
ENST00000536532.6:c.560C>T	ENSP00000440946.1:p.Thr187Ile
ENST00000537820.2:c.560C>T	ENSP00000441818.1:p.Thr187Ile
ENST00000539235.6:c.219-1170C>T	ENSP00000446464.1:n.219-1170C>T
ENST00000695889.1:c.219-1318C>T	ENSP00000512240.1:n.219-1318C>T
ENST00000695890.1:n.2363C>T
ENST00000695891.1:c.219-1318C>T	ENSP00000512241.1:n.219-1318C>T
ENST00000695927.1:c.638C>T	ENSP00000512270.1:p.Thr213Ile
ENST00000695949.1:c.557C>T	ENSP00000512281.1:p.Thr186Ile
ENST00000695957.1:c.*51C>T	ENSP00000512286.1:n.*51C>T
ENST00000695991.1:c.217-1318C>T	ENSP00000512314.1:n.217-1318C>T
ENST00000695992.1:c.560C>T	ENSP00000512315.1:p.Thr187Ile
ENST00000695993.1:c.560C>T	ENSP00000512316.1:p.Thr187Ile
ENST00000695994.1:c.560C>T	ENSP00000512317.1:p.Thr187Ile
ENST00000695995.1:c.217-1170C>T	ENSP00000512318.1:n.217-1170C>T
ENST00000695996.1:n.631C>T
ENST00000695997.1:n.515C>T
ENST00000696003.1:n.652C>T
ENST00000696004.1:n.652C>T
ENST00000696005.1:c.82C>T
ENST00000696006.1:c.560C>T	ENSP00000512325.1:p.Thr187Ile
ENST00000696007.1:c.411C>T	ENSP00000512326.1:n.411C>T
ENST00000696008.1:n.1715C>T
ENST00000696009.1:n.1910C>T
ENST00000696017.1:c.557C>T	ENSP00000512333.1:p.Thr186Ile
ENST00000696034.1:c.560C>T	ENSP00000512343.1:p.Thr187Ile
ENST00000696035.1:n.670C>T
ENST00000696036.1:n.1250C>T
ENST00000696037.1:n.2237C>T
ENST00000696038.1:c.*306C>T	ENSP00000512344.1:n.*306C>T
ENST00000696039.1:n.848C>T
ENST00000696058.1:c.560C>T	ENSP00000512361.1:p.Thr187Ile
ENST00000696059.1:c.*505C>T	ENSP00000512362.1:n.*505C>T
ENST00000696060.1:c.560C>T	ENSP00000512363.1:p.Thr187Ile
ENST00000696061.1:c.557C>T	ENSP00000512364.1:p.Thr186Ile
ENST00000696062.1:c.623C>T	ENSP00000512365.1:p.Thr208Ile
ENST00000696063.1:c.635C>T	ENSP00000512366.1:p.Thr212Ile
ENST00000696064.1:c.407C>T	ENSP00000512367.1:p.Thr136Ile
ENST00000696065.1:c.66-1318C>T	ENSP00000512368.1:n.66-1318C>T
ENST00000696074.1:n.176C>T
ENST00000696075.1:c.*530C>T	ENSP00000512374.1:n.*530C>T
ENST00000696076.1:c.560C>T	ENSP00000512375.1:p.Thr187Ile
ENST00000696077.1:c.557C>T	ENSP00000512376.1:p.Thr186Ile
ENST00000696078.1:c.560C>T	ENSP00000512377.1:p.Thr187Ile
ENST00000696079.1:c.560C>T	ENSP00000512378.1:p.Thr187Ile
ENST00000696080.1:c.560C>T	ENSP00000512379.1:p.Thr187Ile
ENST00000696081.1:n.679C>T
ENST00000696082.1:c.638C>T	ENSP00000512380.1:p.Thr213Ile
ENST00000696083.1:n.1441C>T
ENST00000696084.1:n.661C>T
ENST00000696104.1:c.363-1318C>T	ENSP00000512399.1:n.363-1318C>T
ENST00000696105.1:c.*101C>T	ENSP00000512400.1:n.*101C>T
ENST00000372874.9:c.560C>T MANE Select	ENSP00000361965.4:p.Thr187Ile
ENST00000372874.8:c.560C>T	ENSP00000361965.4:p.Thr187Ile
ENST00000464097.5:n.234C>T
ENST00000492931.5:n.644C>T
ENST00000536532.5:c.560C>T	ENSP00000440946.1:p.Thr187Ile
ENST00000537820.1:c.560C>T	ENSP00000441818.1:p.Thr187Ile
ENST00000539235.5:c.219-1170C>T	ENSP00000446464.1:n.219-1170C>T
NM_000022.2:c.560C>T , LRG_16t1:c.560C>T	NP_000013.2:p.Thr187Ile
XM_005260236.2:c.560C>T	XP_005260293.1:p.Thr187Ile
XM_011528478.1:c.155C>T	XP_011526780.1:p.Thr52Ile
XM_011528479.1:c.155C>T	XP_011526781.1:p.Thr52Ile
XR_244129.1:n.614C>T
NM_000022.3:c.560C>T	NP_000013.2:p.Thr187Ile
NM_001322050.1:c.155C>T	NP_001308979.1:p.Thr52Ile
NM_001322051.1:c.560C>T	NP_001308980.1:p.Thr187Ile
NR_136160.1:n.711C>T
NM_000022.4:c.560C>T MANE Select	NP_000013.2:p.Thr187Ile
NM_001322050.2:c.155C>T	NP_001308979.1:p.Thr52Ile
NM_001322051.2:c.560C>T	NP_001308980.1:p.Thr187Ile
NR_136160.2:n.652C>T