Canonical Allele Identifier: CA115292
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1979
dbSNP Id: rs121908728

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625593G>T , CM000682.2:g.44625593G>T GRCh38
NC_000020.10:g.43254234G>T , CM000682.1:g.43254234G>T GRCh37
NC_000020.9:g.42687648G>T NCBI36
NG_007385.1:g.31143C>A , LRG_16:g.31143C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.8:c.454C>A ENSP00000361965.4:p.Leu152Met
ENST00000536532.5:c.454C>A ENSP00000440946.1:p.Leu152Met
ENST00000537820.1:c.454C>A ENSP00000441818.1:p.Leu152Met
ENST00000539235.5:c.219-2515C>A ENSP00000446464.1:p.=
NM_000022.2:c.454C>A , LRG_16t1:c.454C>A NP_000013.2:p.Leu152Met
XM_005260236.2:c.454C>A XP_005260293.1:p.Leu152Met
XM_011528478.1:c.73+863C>A XP_011526780.1:p.=
XM_011528479.1:c.73+863C>A XP_011526781.1:p.=
NM_000022.3:c.454C>A NP_000013.2:p.Leu152Met
NM_001322050.1:c.73+863C>A NP_001308979.1:p.=
NM_001322051.1:c.454C>A NP_001308980.1:p.Leu152Met
NM_000022.4:c.454C>A MANE Select NP_000013.2:p.Leu152Met
NM_001322050.2:c.73+863C>A NP_001308979.1:p.=
NM_001322051.2:c.454C>A NP_001308980.1:p.Leu152Met