Canonical Allele Identifier: CA252011
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1970
dbSNP Id: rs121908735

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625581G>A , CM000682.2:g.44625581G>A GRCh38
NC_000020.10:g.43254222G>A , CM000682.1:g.43254222G>A GRCh37
NC_000020.9:g.42687636G>A NCBI36
NG_007385.1:g.31155C>T , LRG_16:g.31155C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.9:c.466C>T MANE Select ENSP00000361965.4:p.Arg156Cys
ENST00000372874.8:c.466C>T ENSP00000361965.4:p.Arg156Cys
ENST00000464097.5:n.140C>T
ENST00000492931.5:n.550C>T
ENST00000536532.5:c.466C>T ENSP00000440946.1:p.Arg156Cys
ENST00000537820.1:c.466C>T ENSP00000441818.1:p.Arg156Cys
ENST00000539235.5:c.219-2503C>T ENSP00000446464.1:p.=
NM_000022.2:c.466C>T , LRG_16t1:c.466C>T NP_000013.2:p.Arg156Cys
XM_005260236.2:c.466C>T XP_005260293.1:p.Arg156Cys
XM_011528478.1:c.73+875C>T XP_011526780.1:p.=
XM_011528479.1:c.73+875C>T XP_011526781.1:p.=
XR_244129.1:n.520C>T
NM_000022.3:c.466C>T NP_000013.2:p.Arg156Cys
NM_001322050.1:c.73+875C>T NP_001308979.1:p.=
NM_001322051.1:c.466C>T NP_001308980.1:p.Arg156Cys
NR_136160.1:n.617C>T
NM_000022.4:c.466C>T MANE Select NP_000013.2:p.Arg156Cys
NM_001322050.2:c.73+875C>T NP_001308979.1:p.=
NM_001322051.2:c.466C>T NP_001308980.1:p.Arg156Cys
NR_136160.2:n.558C>T