Canonical Allele Identifier: CA266020
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 68267
dbSNP Id: rs121908724

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44636264C>T , CM000682.2:g.44636264C>T GRCh38
NC_000020.10:g.43264905C>T , CM000682.1:g.43264905C>T GRCh37
NC_000020.9:g.42698319C>T NCBI36
NG_007385.1:g.20472G>A , LRG_16:g.20472G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.8:c.58G>A ENSP00000361965.4:p.Gly20Arg
ENST00000536532.5:c.58G>A ENSP00000440946.1:p.Gly20Arg
ENST00000537820.1:c.58G>A ENSP00000441818.1:p.Gly20Arg
ENST00000539235.5:c.58G>A ENSP00000446464.1:p.Gly20Arg
NM_000022.2:c.58G>A , LRG_16t1:c.58G>A NP_000013.2:p.Gly20Arg
XM_005260236.2:c.58G>A XP_005260293.1:p.Gly20Arg
XM_011528478.1:c.-232G>A XP_011526780.1:p.=
XM_011528479.1:c.-232G>A XP_011526781.1:p.=
NM_000022.3:c.58G>A NP_000013.2:p.Gly20Arg
NM_001322050.1:c.-232G>A NP_001308979.1:p.=
NM_001322051.1:c.58G>A NP_001308980.1:p.Gly20Arg
NM_000022.4:c.58G>A MANE Select NP_000013.2:p.Gly20Arg
NM_001322050.2:c.-232G>A NP_001308979.1:p.=
NM_001322051.2:c.58G>A NP_001308980.1:p.Gly20Arg