Canonical Allele Identifier: CA510594606

Gene: ADA

Linked Data

• gnomAD v4: 20-44626587-C-T
• MyVariant Identifiers: chr20:g.43255228C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626587C>T , CM000682.2:g.44626587C>T	GRCh38
NC_000020.10:g.43255228C>T , CM000682.1:g.43255228C>T	GRCh37
NC_000020.9:g.42688642C>T	NCBI36
NG_007385.1:g.30149G>A , LRG_16:g.30149G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.322G>A
ENST00000536076.2:c.78G>A	ENSP00000512234.1:p.Glu26=
ENST00000536532.6:c.231G>A	ENSP00000440946.1:p.Glu77=
ENST00000537820.2:c.231G>A	ENSP00000441818.1:p.Glu77=
ENST00000539235.6:c.218+2460G>A	ENSP00000446464.1:n.218+2460G>A
ENST00000695889.1:c.218+2460G>A	ENSP00000512240.1:n.218+2460G>A
ENST00000695890.1:n.2034G>A
ENST00000695891.1:c.218+2460G>A	ENSP00000512241.1:n.218+2460G>A
ENST00000695927.1:c.309G>A	ENSP00000512270.1:p.Glu103=
ENST00000695949.1:c.228G>A	ENSP00000512281.1:p.Glu76=
ENST00000695957.1:c.231G>A	ENSP00000512286.1:p.Glu77=
ENST00000695991.1:c.216+2462G>A	ENSP00000512314.1:n.216+2462G>A
ENST00000695992.1:c.231G>A	ENSP00000512315.1:p.Glu77=
ENST00000695993.1:c.231G>A	ENSP00000512316.1:p.Glu77=
ENST00000695994.1:c.231G>A	ENSP00000512317.1:p.Glu77=
ENST00000695995.1:c.216+2462G>A	ENSP00000512318.1:n.216+2462G>A
ENST00000695996.1:n.302G>A
ENST00000695997.1:n.302G>A
ENST00000696003.1:n.323G>A
ENST00000696004.1:n.323G>A
ENST00000696006.1:c.231G>A	ENSP00000512325.1:p.Glu77=
ENST00000696007.1:c.198G>A	ENSP00000512326.1:p.Glu66=
ENST00000696009.1:n.342G>A
ENST00000696017.1:c.228G>A	ENSP00000512333.1:p.Glu76=
ENST00000696034.1:c.231G>A	ENSP00000512343.1:p.Glu77=
ENST00000696035.1:n.341G>A
ENST00000696036.1:n.921G>A
ENST00000696037.1:n.1908G>A
ENST00000696038.1:c.229G>A	ENSP00000512344.1:p.Gly77Ser
ENST00000696039.1:n.519G>A
ENST00000696058.1:c.231G>A	ENSP00000512361.1:p.Glu77=
ENST00000696059.1:c.*176G>A	ENSP00000512362.1:n.*176G>A
ENST00000696060.1:c.231G>A	ENSP00000512363.1:p.Glu77=
ENST00000696061.1:c.228G>A	ENSP00000512364.1:p.Glu76=
ENST00000696062.1:c.294G>A	ENSP00000512365.1:p.Glu98=
ENST00000696063.1:c.306G>A	ENSP00000512366.1:p.Glu102=
ENST00000696064.1:c.78G>A	ENSP00000512367.1:p.Glu26=
ENST00000696065.1:c.65+2460G>A	ENSP00000512368.1:n.65+2460G>A
ENST00000696075.1:c.*201G>A	ENSP00000512374.1:n.*201G>A
ENST00000696076.1:c.231G>A	ENSP00000512375.1:p.Glu77=
ENST00000696077.1:c.228G>A	ENSP00000512376.1:p.Glu76=
ENST00000696078.1:c.231G>A	ENSP00000512377.1:p.Glu77=
ENST00000696079.1:c.231G>A	ENSP00000512378.1:p.Glu77=
ENST00000696080.1:c.231G>A	ENSP00000512379.1:p.Glu77=
ENST00000696082.1:c.309G>A	ENSP00000512380.1:p.Glu103=
ENST00000696084.1:n.332G>A
ENST00000696104.1:c.231G>A	ENSP00000512399.1:p.Glu77=
ENST00000696105.1:c.231G>A	ENSP00000512400.1:p.Glu77=
ENST00000372874.9:c.231G>A MANE Select	ENSP00000361965.4:p.Glu77=
ENST00000372874.8:c.231G>A	ENSP00000361965.4:p.Glu77=
ENST00000492931.5:n.315G>A
ENST00000536076.1:n.411G>A
ENST00000536532.5:c.231G>A	ENSP00000440946.1:p.Glu77=
ENST00000537820.1:c.231G>A	ENSP00000441818.1:p.Glu77=
ENST00000539235.5:c.218+2460G>A	ENSP00000446464.1:n.218+2460G>A
ENST00000545776.5:n.285G>A
NM_000022.2:c.231G>A , LRG_16t1:c.231G>A	NP_000013.2:p.Glu77=
XM_005260236.2:c.231G>A	XP_005260293.1:p.Glu77=
XM_011528478.1:c.-59G>A	XP_011526780.1:n.-59G>A
XM_011528479.1:c.-59G>A	XP_011526781.1:n.-59G>A
XR_244129.1:n.285G>A
NM_000022.3:c.231G>A	NP_000013.2:p.Glu77=
NM_001322050.1:c.-59G>A	NP_001308979.1:n.-59G>A
NM_001322051.1:c.231G>A	NP_001308980.1:p.Glu77=
NR_136160.1:n.382G>A
NM_000022.4:c.231G>A MANE Select	NP_000013.2:p.Glu77=
NM_001322050.2:c.-59G>A	NP_001308979.1:n.-59G>A
NM_001322051.2:c.231G>A	NP_001308980.1:p.Glu77=
NR_136160.2:n.323G>A