Canonical Allele Identifier: CA115279
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1962
dbSNP Id: rs121908736

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626592G>A , CM000682.2:g.44626592G>A GRCh38
NC_000020.10:g.43255233G>A , CM000682.1:g.43255233G>A GRCh37
NC_000020.9:g.42688647G>A NCBI36
NG_007385.1:g.30144C>T , LRG_16:g.30144C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.8:c.226C>T ENSP00000361965.4:p.Arg76Trp
ENST00000536532.5:c.226C>T ENSP00000440946.1:p.Arg76Trp
ENST00000537820.1:c.226C>T ENSP00000441818.1:p.Arg76Trp
ENST00000539235.5:c.218+2455C>T ENSP00000446464.1:p.=
NM_000022.2:c.226C>T , LRG_16t1:c.226C>T NP_000013.2:p.Arg76Trp
XM_005260236.2:c.226C>T XP_005260293.1:p.Arg76Trp
XM_011528478.1:c.-64C>T XP_011526780.1:p.=
XM_011528479.1:c.-64C>T XP_011526781.1:p.=
NM_000022.3:c.226C>T NP_000013.2:p.Arg76Trp
NM_001322050.1:c.-64C>T NP_001308979.1:p.=
NM_001322051.1:c.226C>T NP_001308980.1:p.Arg76Trp
NM_000022.4:c.226C>T MANE Select NP_000013.2:p.Arg76Trp
NM_001322050.2:c.-64C>T NP_001308979.1:p.=
NM_001322051.2:c.226C>T NP_001308980.1:p.Arg76Trp