Canonical Allele Identifier: CA377399026
Gene: ADK HGNC NCBI
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000286621.7:c.953C>T ENSP00000286621.3:p.Ala318Val
ENST00000372734.5:c.902C>T ENSP00000361819.3:p.Ala301Val
ENST00000539909.6:c.953C>T MANE Select ENSP00000443965.2:p.Ala318Val
ENST00000541550.6:c.902C>T ENSP00000438321.2:p.Ala301Val
ENST00000672394.1:c.677C>T ENSP00000500390.1:p.Ala226Val
ENST00000672429.1:c.782C>T ENSP00000500292.1:p.Ala261Val
ENST00000672604.1:c.503-38063C>T
ENST00000672920.1:c.*698C>T ENSP00000500141.1:n.*698C>T
ENST00000673027.1:c.848C>T ENSP00000500201.1:p.Ala283Val
ENST00000673310.1:c.*546C>T ENSP00000500097.1:n.*546C>T
ENST00000673352.1:c.838C>T ENSP00000500056.1:p.His280Tyr
ENST00000286621.6:c.953C>T ENSP00000286621.2:p.Ala318Val
ENST00000372734.3:c.902C>T ENSP00000361819.3:p.Ala301Val
ENST00000539909.5:c.782C>T ENSP00000443965.1:p.Ala261Val
ENST00000541550.5:c.848C>T ENSP00000438321.1:p.Ala283Val
NM_001123.3:c.902C>T NP_001114.2:p.Ala301Val
NM_001202449.1:c.848C>T NP_001189378.1:p.Ala283Val
NM_001202450.1:c.782C>T NP_001189379.1:p.Ala261Val
NM_006721.3:c.953C>T NP_006712.2:p.Ala318Val
XM_011539297.1:c.869C>T XP_011537599.1:p.Ala290Val
XM_017015699.1:c.758C>T XP_016871188.1:p.Ala253Val
XM_017015700.1:c.838C>T XP_016871189.1:p.His280Tyr
XM_017015701.1:c.731C>T XP_016871190.1:p.Ala244Val
XM_017015702.1:c.787C>T XP_016871191.1:p.His263Tyr
XM_017015703.2:c.677C>T XP_016871192.1:p.Ala226Val
XM_017015705.1:c.667C>T XP_016871194.1:p.His223Tyr
NM_001369123.1:c.838C>T NP_001356052.1:p.His280Tyr
NM_001369124.1:c.731C>T NP_001356053.1:p.Ala244Val
NM_006721.4:c.953C>T MANE Select NP_006712.2:p.Ala318Val
NM_001123.4:c.902C>T NP_001114.2:p.Ala301Val
NM_001202449.2:c.848C>T NP_001189378.1:p.Ala283Val
NM_001202450.2:c.782C>T NP_001189379.1:p.Ala261Val