Canonical Allele Identifier: CA251998

Gene: ADA

Linked Data

• ClinVar Variation Id: 1956
• ClinVar RCV Id: RCV000002033 ; RCV000788281
• dbSNP Id: rs121908714
• gnomAD v2: 20-43255157-C-T
• gnomAD v3: 20-44626516-C-T
• gnomAD v4: 20-44626516-C-T
• COSMIC: COSM5857953
• MyVariant Identifiers: chr20:g.43255157C>T (hg19) ; chr20:g.44626516C>T (hg38)
• PubMed: PMID:3839802

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626516C>T , CM000682.2:g.44626516C>T	GRCh38
NC_000020.10:g.43255157C>T , CM000682.1:g.43255157C>T	GRCh37
NC_000020.9:g.42688571C>T	NCBI36
NG_007385.1:g.30220G>A , LRG_16:g.30220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.393G>A
ENST00000536076.2:c.149G>A	ENSP00000512234.1:p.Arg50Gln
ENST00000536532.6:c.302G>A	ENSP00000440946.1:p.Arg101Gln
ENST00000537820.2:c.302G>A	ENSP00000441818.1:p.Arg101Gln
ENST00000539235.6:c.218+2531G>A	ENSP00000446464.1:n.218+2531G>A
ENST00000695889.1:c.218+2531G>A	ENSP00000512240.1:n.218+2531G>A
ENST00000695890.1:n.2105G>A
ENST00000695891.1:c.218+2531G>A	ENSP00000512241.1:n.218+2531G>A
ENST00000695927.1:c.380G>A	ENSP00000512270.1:p.Arg127Gln
ENST00000695949.1:c.299G>A	ENSP00000512281.1:p.Arg100Gln
ENST00000695957.1:c.302G>A	ENSP00000512286.1:p.Arg101Gln
ENST00000695991.1:c.216+2533G>A	ENSP00000512314.1:n.216+2533G>A
ENST00000695992.1:c.302G>A	ENSP00000512315.1:p.Arg101Gln
ENST00000695993.1:c.302G>A	ENSP00000512316.1:p.Arg101Gln
ENST00000695994.1:c.302G>A	ENSP00000512317.1:p.Arg101Gln
ENST00000695995.1:c.216+2533G>A	ENSP00000512318.1:n.216+2533G>A
ENST00000695996.1:n.373G>A
ENST00000695997.1:n.373G>A
ENST00000696003.1:n.394G>A
ENST00000696004.1:n.394G>A
ENST00000696006.1:c.302G>A	ENSP00000512325.1:p.Arg101Gln
ENST00000696007.1:c.269G>A	ENSP00000512326.1:p.Arg90Gln
ENST00000696009.1:n.413G>A
ENST00000696017.1:c.299G>A	ENSP00000512333.1:p.Arg100Gln
ENST00000696034.1:c.302G>A	ENSP00000512343.1:p.Arg101Gln
ENST00000696035.1:n.412G>A
ENST00000696036.1:n.992G>A
ENST00000696037.1:n.1979G>A
ENST00000696038.1:c.*48G>A	ENSP00000512344.1:n.*48G>A
ENST00000696039.1:n.590G>A
ENST00000696058.1:c.302G>A	ENSP00000512361.1:p.Arg101Gln
ENST00000696059.1:c.*247G>A	ENSP00000512362.1:n.*247G>A
ENST00000696060.1:c.302G>A	ENSP00000512363.1:p.Arg101Gln
ENST00000696061.1:c.299G>A	ENSP00000512364.1:p.Arg100Gln
ENST00000696062.1:c.365G>A	ENSP00000512365.1:p.Arg122Gln
ENST00000696063.1:c.377G>A	ENSP00000512366.1:p.Arg126Gln
ENST00000696064.1:c.149G>A	ENSP00000512367.1:p.Arg50Gln
ENST00000696065.1:c.65+2531G>A	ENSP00000512368.1:n.65+2531G>A
ENST00000696075.1:c.*272G>A	ENSP00000512374.1:n.*272G>A
ENST00000696076.1:c.302G>A	ENSP00000512375.1:p.Arg101Gln
ENST00000696077.1:c.299G>A	ENSP00000512376.1:p.Arg100Gln
ENST00000696078.1:c.302G>A	ENSP00000512377.1:p.Arg101Gln
ENST00000696079.1:c.302G>A	ENSP00000512378.1:p.Arg101Gln
ENST00000696080.1:c.302G>A	ENSP00000512379.1:p.Arg101Gln
ENST00000696082.1:c.380G>A	ENSP00000512380.1:p.Arg127Gln
ENST00000696084.1:n.403G>A
ENST00000696104.1:c.302G>A	ENSP00000512399.1:p.Arg101Gln
ENST00000696105.1:c.302G>A	ENSP00000512400.1:p.Arg101Gln
ENST00000372874.9:c.302G>A MANE Select	ENSP00000361965.4:p.Arg101Gln
ENST00000372874.8:c.302G>A	ENSP00000361965.4:p.Arg101Gln
ENST00000492931.5:n.386G>A
ENST00000536532.5:c.302G>A	ENSP00000440946.1:p.Arg101Gln
ENST00000537820.1:c.302G>A	ENSP00000441818.1:p.Arg101Gln
ENST00000539235.5:c.218+2531G>A	ENSP00000446464.1:n.218+2531G>A
ENST00000545776.5:n.356G>A
NM_000022.2:c.302G>A , LRG_16t1:c.302G>A	NP_000013.2:p.Arg101Gln
XM_005260236.2:c.302G>A	XP_005260293.1:p.Arg101Gln
XM_011528478.1:c.13G>A	XP_011526780.1:p.Gly5Ser
XM_011528479.1:c.13G>A	XP_011526781.1:p.Gly5Ser
XR_244129.1:n.356G>A
NM_000022.3:c.302G>A	NP_000013.2:p.Arg101Gln
NM_001322050.1:c.13G>A	NP_001308979.1:p.Gly5Ser
NM_001322051.1:c.302G>A	NP_001308980.1:p.Arg101Gln
NR_136160.1:n.453G>A
NM_000022.4:c.302G>A MANE Select	NP_000013.2:p.Arg101Gln
NM_001322050.2:c.13G>A	NP_001308979.1:p.Gly5Ser
NM_001322051.2:c.302G>A	NP_001308980.1:p.Arg101Gln
NR_136160.2:n.394G>A