Canonical Allele Identifier: CA249476
Gene: ADK HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74670258C>A , CM000672.2:g.74670258C>A GRCh38
NC_000010.10:g.76430016C>A , CM000672.1:g.76430016C>A GRCh37
NC_000010.9:g.76100022C>A NCBI36
NG_030484.1:g.524074C>A
NG_030484.2:g.524074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286621.7:c.953C>A ENSP00000286621.3:p.Ala318Glu
ENST00000372734.5:c.902C>A ENSP00000361819.3:p.Ala301Glu
ENST00000539909.6:c.953C>A MANE Select ENSP00000443965.2:p.Ala318Glu
ENST00000541550.6:c.902C>A ENSP00000438321.2:p.Ala301Glu
ENST00000672394.1:c.677C>A ENSP00000500390.1:p.Ala226Glu
ENST00000672429.1:c.782C>A ENSP00000500292.1:p.Ala261Glu
ENST00000672604.1:c.503-38063C>A
ENST00000672920.1:c.*698C>A ENSP00000500141.1:n.*698C>A
ENST00000673027.1:c.848C>A ENSP00000500201.1:p.Ala283Glu
ENST00000673310.1:c.*546C>A ENSP00000500097.1:n.*546C>A
ENST00000673352.1:c.838C>A ENSP00000500056.1:p.His280Asn
ENST00000286621.6:c.953C>A ENSP00000286621.2:p.Ala318Glu
ENST00000372734.3:c.902C>A ENSP00000361819.3:p.Ala301Glu
ENST00000539909.5:c.782C>A ENSP00000443965.1:p.Ala261Glu
ENST00000541550.5:c.848C>A ENSP00000438321.1:p.Ala283Glu
NM_001123.3:c.902C>A NP_001114.2:p.Ala301Glu
NM_001202449.1:c.848C>A NP_001189378.1:p.Ala283Glu
NM_001202450.1:c.782C>A NP_001189379.1:p.Ala261Glu
NM_006721.3:c.953C>A NP_006712.2:p.Ala318Glu
XM_011539297.1:c.869C>A XP_011537599.1:p.Ala290Glu
XM_017015699.1:c.758C>A XP_016871188.1:p.Ala253Glu
XM_017015700.1:c.838C>A XP_016871189.1:p.His280Asn
XM_017015701.1:c.731C>A XP_016871190.1:p.Ala244Glu
XM_017015702.1:c.787C>A XP_016871191.1:p.His263Asn
XM_017015703.2:c.677C>A XP_016871192.1:p.Ala226Glu
XM_017015705.1:c.667C>A XP_016871194.1:p.His223Asn
NM_001369123.1:c.838C>A NP_001356052.1:p.His280Asn
NM_001369124.1:c.731C>A NP_001356053.1:p.Ala244Glu
NM_006721.4:c.953C>A MANE Select NP_006712.2:p.Ala318Glu
NM_001123.4:c.902C>A NP_001114.2:p.Ala301Glu
NM_001202449.2:c.848C>A NP_001189378.1:p.Ala283Glu
NM_001202450.2:c.782C>A NP_001189379.1:p.Ala261Glu