Canonical Allele Identifier: CA377397930
Gene: ADK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74525311C>T , CM000672.2:g.74525311C>T GRCh38
NC_000010.10:g.76285069C>T , CM000672.1:g.76285069C>T GRCh37
NC_000010.9:g.75955075C>T NCBI36
NG_030484.1:g.379127C>T
NG_030484.2:g.379127C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286621.7:c.611C>T ENSP00000286621.3:p.Ser204Phe
ENST00000372734.5:c.560C>T ENSP00000361819.3:p.Ser187Phe
ENST00000539909.6:c.611C>T MANE Select ENSP00000443965.2:p.Ser204Phe
ENST00000541550.6:c.560C>T ENSP00000438321.2:p.Ser187Phe
ENST00000672394.1:c.335C>T ENSP00000500390.1:p.Ser112Phe
ENST00000672429.1:c.556-63971C>T ENSP00000500292.1:n.556-63971C>T
ENST00000672604.1:c.351C>T
ENST00000672920.1:c.*356C>T ENSP00000500141.1:n.*356C>T
ENST00000673027.1:c.506C>T ENSP00000500201.1:p.Ser169Phe
ENST00000673310.1:c.560C>T ENSP00000500097.1:p.Ser187Phe
ENST00000673352.1:c.611C>T ENSP00000500056.1:p.Ser204Phe
ENST00000286621.6:c.611C>T ENSP00000286621.2:p.Ser204Phe
ENST00000372734.3:c.560C>T ENSP00000361819.3:p.Ser187Phe
ENST00000539909.5:c.556-63971C>T ENSP00000443965.1:n.556-63971C>T
ENST00000541550.5:c.506C>T ENSP00000438321.1:p.Ser169Phe
NM_001123.3:c.560C>T NP_001114.2:p.Ser187Phe
NM_001202449.1:c.506C>T NP_001189378.1:p.Ser169Phe
NM_001202450.1:c.556-63971C>T NP_001189379.1:n.556-63971C>T
NM_006721.3:c.611C>T NP_006712.2:p.Ser204Phe
NR_120673.1:n.259+2455G>A
XM_011539297.1:c.527C>T XP_011537599.1:p.Ser176Phe
XM_017015698.1:c.611C>T XP_016871187.1:p.Ser204Phe
XM_017015699.1:c.416C>T XP_016871188.1:p.Ser139Phe
XM_017015700.1:c.611C>T XP_016871189.1:p.Ser204Phe
XM_017015701.1:c.505-63971C>T XP_016871190.1:n.505-63971C>T
XM_017015702.1:c.560C>T XP_016871191.1:p.Ser187Phe
XM_017015703.2:c.335C>T XP_016871192.1:p.Ser112Phe
XM_017015704.1:c.611C>T XP_016871193.1:p.Ser204Phe
XM_017015705.1:c.556-63971C>T XP_016871194.1:n.556-63971C>T
XM_017015706.1:c.560C>T XP_016871195.1:p.Ser187Phe
NM_001369123.1:c.611C>T NP_001356052.1:p.Ser204Phe
NM_001369124.1:c.505-63971C>T NP_001356053.1:n.505-63971C>T
NM_006721.4:c.611C>T MANE Select NP_006712.2:p.Ser204Phe
NM_001123.4:c.560C>T NP_001114.2:p.Ser187Phe
NM_001202449.2:c.506C>T NP_001189378.1:p.Ser169Phe
NM_001202450.2:c.556-63971C>T NP_001189379.1:n.556-63971C>T