Canonical Allele Identifier: CA377397874
Gene: ADK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74525284C>T , CM000672.2:g.74525284C>T GRCh38
NC_000010.10:g.76285042C>T , CM000672.1:g.76285042C>T GRCh37
NC_000010.9:g.75955048C>T NCBI36
NG_030484.1:g.379100C>T
NG_030484.2:g.379100C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286621.7:c.584C>T ENSP00000286621.3:p.Ser195Leu
ENST00000372734.5:c.533C>T ENSP00000361819.3:p.Ser178Leu
ENST00000539909.6:c.584C>T MANE Select ENSP00000443965.2:p.Ser195Leu
ENST00000541550.6:c.533C>T ENSP00000438321.2:p.Ser178Leu
ENST00000672394.1:c.308C>T ENSP00000500390.1:p.Ser103Leu
ENST00000672429.1:c.556-63998C>T ENSP00000500292.1:n.556-63998C>T
ENST00000672604.1:c.324C>T
ENST00000672920.1:c.*329C>T ENSP00000500141.1:n.*329C>T
ENST00000673027.1:c.479C>T ENSP00000500201.1:p.Ser160Leu
ENST00000673310.1:c.533C>T ENSP00000500097.1:p.Ser178Leu
ENST00000673352.1:c.584C>T ENSP00000500056.1:p.Ser195Leu
ENST00000286621.6:c.584C>T ENSP00000286621.2:p.Ser195Leu
ENST00000372734.3:c.533C>T ENSP00000361819.3:p.Ser178Leu
ENST00000539909.5:c.556-63998C>T ENSP00000443965.1:n.556-63998C>T
ENST00000541550.5:c.479C>T ENSP00000438321.1:p.Ser160Leu
NM_001123.3:c.533C>T NP_001114.2:p.Ser178Leu
NM_001202449.1:c.479C>T NP_001189378.1:p.Ser160Leu
NM_001202450.1:c.556-63998C>T NP_001189379.1:n.556-63998C>T
NM_006721.3:c.584C>T NP_006712.2:p.Ser195Leu
NR_120673.1:n.259+2482G>A
XM_011539297.1:c.500C>T XP_011537599.1:p.Ser167Leu
XM_017015698.1:c.584C>T XP_016871187.1:p.Ser195Leu
XM_017015699.1:c.389C>T XP_016871188.1:p.Ser130Leu
XM_017015700.1:c.584C>T XP_016871189.1:p.Ser195Leu
XM_017015701.1:c.505-63998C>T XP_016871190.1:n.505-63998C>T
XM_017015702.1:c.533C>T XP_016871191.1:p.Ser178Leu
XM_017015703.2:c.308C>T XP_016871192.1:p.Ser103Leu
XM_017015704.1:c.584C>T XP_016871193.1:p.Ser195Leu
XM_017015705.1:c.556-63998C>T XP_016871194.1:n.556-63998C>T
XM_017015706.1:c.533C>T XP_016871195.1:p.Ser178Leu
NM_001369123.1:c.584C>T NP_001356052.1:p.Ser195Leu
NM_001369124.1:c.505-63998C>T NP_001356053.1:n.505-63998C>T
NM_006721.4:c.584C>T MANE Select NP_006712.2:p.Ser195Leu
NM_001123.4:c.533C>T NP_001114.2:p.Ser178Leu
NM_001202449.2:c.479C>T NP_001189378.1:p.Ser160Leu
NM_001202450.2:c.556-63998C>T NP_001189379.1:n.556-63998C>T