Canonical Allele Identifier: CA510595348

Gene: ADA

Linked Data

• gnomAD v4: 20-44636274-G-T
• MyVariant Identifiers: chr20:g.43264915G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636274G>T , CM000682.2:g.44636274G>T	GRCh38
NC_000020.10:g.43264915G>T , CM000682.1:g.43264915G>T	GRCh37
NC_000020.9:g.42698329G>T	NCBI36
NG_007385.1:g.20462C>A , LRG_16:g.20462C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.139C>A
ENST00000536076.2:c.-106C>A	ENSP00000512234.1:n.-106C>A
ENST00000536532.6:c.48C>A	ENSP00000440946.1:p.Val16=
ENST00000537820.2:c.48C>A	ENSP00000441818.1:p.Val16=
ENST00000539235.6:c.48C>A	ENSP00000446464.1:p.Val16=
ENST00000695889.1:c.48C>A	ENSP00000512240.1:p.Val16=
ENST00000695891.1:c.48C>A	ENSP00000512241.1:p.Val16=
ENST00000695927.1:c.126C>A	ENSP00000512270.1:p.Val42=
ENST00000695949.1:c.48C>A	ENSP00000512281.1:p.Val16=
ENST00000695957.1:c.48C>A	ENSP00000512286.1:p.Val16=
ENST00000695991.1:c.48C>A	ENSP00000512314.1:p.Val16=
ENST00000695992.1:c.48C>A	ENSP00000512315.1:p.Val16=
ENST00000695993.1:c.48C>A	ENSP00000512316.1:p.Val16=
ENST00000695994.1:c.48C>A	ENSP00000512317.1:p.Val16=
ENST00000695995.1:c.48C>A	ENSP00000512318.1:p.Val16=
ENST00000695996.1:n.119C>A
ENST00000695997.1:n.119C>A
ENST00000696003.1:n.140C>A
ENST00000696004.1:n.140C>A
ENST00000696006.1:c.48C>A	ENSP00000512325.1:p.Val16=
ENST00000696007.1:c.15C>A	ENSP00000512326.1:p.Val5=
ENST00000696009.1:n.159C>A
ENST00000696010.1:n.161C>A
ENST00000696017.1:c.48C>A	ENSP00000512333.1:p.Val16=
ENST00000696034.1:c.48C>A	ENSP00000512343.1:p.Val16=
ENST00000696038.1:c.48C>A	ENSP00000512344.1:p.Val16=
ENST00000696039.1:n.336C>A
ENST00000696058.1:c.48C>A	ENSP00000512361.1:p.Val16=
ENST00000696059.1:c.155C>A	ENSP00000512362.1:p.Ser52Tyr
ENST00000696060.1:c.48C>A	ENSP00000512363.1:p.Val16=
ENST00000696061.1:c.48C>A	ENSP00000512364.1:p.Val16=
ENST00000696062.1:c.111C>A	ENSP00000512365.1:p.Val37=
ENST00000696063.1:c.123C>A	ENSP00000512366.1:p.Val41=
ENST00000696064.1:c.-103C>A	ENSP00000512367.1:n.-103C>A
ENST00000696065.1:c.-106C>A	ENSP00000512368.1:n.-106C>A
ENST00000696075.1:c.48C>A	ENSP00000512374.1:p.Val16=
ENST00000696076.1:c.48C>A	ENSP00000512375.1:p.Val16=
ENST00000696077.1:c.48C>A	ENSP00000512376.1:p.Val16=
ENST00000696078.1:c.48C>A	ENSP00000512377.1:p.Val16=
ENST00000696079.1:c.48C>A	ENSP00000512378.1:p.Val16=
ENST00000696080.1:c.48C>A	ENSP00000512379.1:p.Val16=
ENST00000696082.1:c.126C>A	ENSP00000512380.1:p.Val42=
ENST00000696084.1:n.149C>A
ENST00000696104.1:c.48C>A	ENSP00000512399.1:p.Val16=
ENST00000696105.1:c.48C>A	ENSP00000512400.1:p.Val16=
ENST00000372874.9:c.48C>A MANE Select	ENSP00000361965.4:p.Val16=
ENST00000372874.8:c.48C>A	ENSP00000361965.4:p.Val16=
ENST00000492931.5:n.132C>A
ENST00000535573.1:n.347C>A
ENST00000536076.1:n.228C>A
ENST00000536532.5:c.48C>A	ENSP00000440946.1:p.Val16=
ENST00000537820.1:c.48C>A	ENSP00000441818.1:p.Val16=
ENST00000539235.5:c.48C>A	ENSP00000446464.1:p.Val16=
ENST00000545776.5:n.102C>A
NM_000022.2:c.48C>A , LRG_16t1:c.48C>A	NP_000013.2:p.Val16=
XM_005260236.2:c.48C>A	XP_005260293.1:p.Val16=
XM_011528478.1:c.-242C>A	XP_011526780.1:n.-242C>A
XM_011528479.1:c.-242C>A	XP_011526781.1:n.-242C>A
XR_244129.1:n.102C>A
NM_000022.3:c.48C>A	NP_000013.2:p.Val16=
NM_001322050.1:c.-242C>A	NP_001308979.1:n.-242C>A
NM_001322051.1:c.48C>A	NP_001308980.1:p.Val16=
NR_136160.1:n.199C>A
NM_000022.4:c.48C>A MANE Select	NP_000013.2:p.Val16=
NM_001322050.2:c.-242C>A	NP_001308979.1:n.-242C>A
NM_001322051.2:c.48C>A	NP_001308980.1:p.Val16=
NR_136160.2:n.140C>A