Canonical Allele Identifier: CA266003

Gene: ADA

Linked Data

• ClinVar Variation Id: 68259
• ClinVar RCV Id: RCV000059098
• dbSNP Id: rs121908714
• gnomAD v3: 20-44626516-C-A
• gnomAD v4: 20-44626516-C-A
• MyVariant Identifiers: chr20:g.43255157C>A (hg19) ; chr20:g.44626516C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.393G>T
ENST00000536076.2:c.149G>T	ENSP00000512234.1:p.Arg50Leu
ENST00000536532.6:c.302G>T	ENSP00000440946.1:p.Arg101Leu
ENST00000537820.2:c.302G>T	ENSP00000441818.1:p.Arg101Leu
ENST00000539235.6:c.218+2531G>T	ENSP00000446464.1:n.218+2531G>T
ENST00000695889.1:c.218+2531G>T	ENSP00000512240.1:n.218+2531G>T
ENST00000695890.1:n.2105G>T
ENST00000695891.1:c.218+2531G>T	ENSP00000512241.1:n.218+2531G>T
ENST00000695927.1:c.380G>T	ENSP00000512270.1:p.Arg127Leu
ENST00000695949.1:c.299G>T	ENSP00000512281.1:p.Arg100Leu
ENST00000695957.1:c.302G>T	ENSP00000512286.1:p.Arg101Leu
ENST00000695991.1:c.216+2533G>T	ENSP00000512314.1:n.216+2533G>T
ENST00000695992.1:c.302G>T	ENSP00000512315.1:p.Arg101Leu
ENST00000695993.1:c.302G>T	ENSP00000512316.1:p.Arg101Leu
ENST00000695994.1:c.302G>T	ENSP00000512317.1:p.Arg101Leu
ENST00000695995.1:c.216+2533G>T	ENSP00000512318.1:n.216+2533G>T
ENST00000695996.1:n.373G>T
ENST00000695997.1:n.373G>T
ENST00000696003.1:n.394G>T
ENST00000696004.1:n.394G>T
ENST00000696006.1:c.302G>T	ENSP00000512325.1:p.Arg101Leu
ENST00000696007.1:c.269G>T	ENSP00000512326.1:p.Arg90Leu
ENST00000696009.1:n.413G>T
ENST00000696017.1:c.299G>T	ENSP00000512333.1:p.Arg100Leu
ENST00000696034.1:c.302G>T	ENSP00000512343.1:p.Arg101Leu
ENST00000696035.1:n.412G>T
ENST00000696036.1:n.992G>T
ENST00000696037.1:n.1979G>T
ENST00000696038.1:c.*48G>T	ENSP00000512344.1:n.*48G>T
ENST00000696039.1:n.590G>T
ENST00000696058.1:c.302G>T	ENSP00000512361.1:p.Arg101Leu
ENST00000696059.1:c.*247G>T	ENSP00000512362.1:n.*247G>T
ENST00000696060.1:c.302G>T	ENSP00000512363.1:p.Arg101Leu
ENST00000696061.1:c.299G>T	ENSP00000512364.1:p.Arg100Leu
ENST00000696062.1:c.365G>T	ENSP00000512365.1:p.Arg122Leu
ENST00000696063.1:c.377G>T	ENSP00000512366.1:p.Arg126Leu
ENST00000696064.1:c.149G>T	ENSP00000512367.1:p.Arg50Leu
ENST00000696065.1:c.65+2531G>T	ENSP00000512368.1:n.65+2531G>T
ENST00000696075.1:c.*272G>T	ENSP00000512374.1:n.*272G>T
ENST00000696076.1:c.302G>T	ENSP00000512375.1:p.Arg101Leu
ENST00000696077.1:c.299G>T	ENSP00000512376.1:p.Arg100Leu
ENST00000696078.1:c.302G>T	ENSP00000512377.1:p.Arg101Leu
ENST00000696079.1:c.302G>T	ENSP00000512378.1:p.Arg101Leu
ENST00000696080.1:c.302G>T	ENSP00000512379.1:p.Arg101Leu
ENST00000696082.1:c.380G>T	ENSP00000512380.1:p.Arg127Leu
ENST00000696084.1:n.403G>T
ENST00000696104.1:c.302G>T	ENSP00000512399.1:p.Arg101Leu
ENST00000696105.1:c.302G>T	ENSP00000512400.1:p.Arg101Leu
ENST00000372874.9:c.302G>T MANE Select	ENSP00000361965.4:p.Arg101Leu
ENST00000372874.8:c.302G>T	ENSP00000361965.4:p.Arg101Leu
ENST00000492931.5:n.386G>T
ENST00000536532.5:c.302G>T	ENSP00000440946.1:p.Arg101Leu
ENST00000537820.1:c.302G>T	ENSP00000441818.1:p.Arg101Leu
ENST00000539235.5:c.218+2531G>T	ENSP00000446464.1:n.218+2531G>T
ENST00000545776.5:n.356G>T
NM_000022.2:c.302G>T , LRG_16t1:c.302G>T	NP_000013.2:p.Arg101Leu
XM_005260236.2:c.302G>T	XP_005260293.1:p.Arg101Leu
XM_011528478.1:c.13G>T	XP_011526780.1:p.Gly5Cys
XM_011528479.1:c.13G>T	XP_011526781.1:p.Gly5Cys
XR_244129.1:n.356G>T
NM_000022.3:c.302G>T	NP_000013.2:p.Arg101Leu
NM_001322050.1:c.13G>T	NP_001308979.1:p.Gly5Cys
NM_001322051.1:c.302G>T	NP_001308980.1:p.Arg101Leu
NR_136160.1:n.453G>T
NM_000022.4:c.302G>T MANE Select	NP_000013.2:p.Arg101Leu
NM_001322050.2:c.13G>T	NP_001308979.1:p.Gly5Cys
NM_001322051.2:c.302G>T	NP_001308980.1:p.Arg101Leu
NR_136160.2:n.394G>T