Canonical Allele Identifier: CA377398158
Gene: ADK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74525409C>A , CM000672.2:g.74525409C>A GRCh38
NC_000010.10:g.76285167C>A , CM000672.1:g.76285167C>A GRCh37
NC_000010.9:g.75955173C>A NCBI36
NG_030484.1:g.379225C>A
NG_030484.2:g.379225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286621.7:c.709C>A ENSP00000286621.3:p.Leu237Ile
ENST00000372734.5:c.658C>A ENSP00000361819.3:p.Leu220Ile
ENST00000539909.6:c.709C>A MANE Select ENSP00000443965.2:p.Leu237Ile
ENST00000541550.6:c.658C>A ENSP00000438321.2:p.Leu220Ile
ENST00000672394.1:c.433C>A ENSP00000500390.1:p.Leu145Ile
ENST00000672429.1:c.556-63873C>A ENSP00000500292.1:n.556-63873C>A
ENST00000672604.1:c.449C>A
ENST00000672920.1:c.*454C>A ENSP00000500141.1:n.*454C>A
ENST00000673027.1:c.604C>A ENSP00000500201.1:p.Leu202Ile
ENST00000673310.1:c.658C>A ENSP00000500097.1:p.Leu220Ile
ENST00000673352.1:c.709C>A ENSP00000500056.1:p.Leu237Ile
ENST00000286621.6:c.709C>A ENSP00000286621.2:p.Leu237Ile
ENST00000372734.3:c.658C>A ENSP00000361819.3:p.Leu220Ile
ENST00000467840.1:n.46C>A
ENST00000539909.5:c.556-63873C>A ENSP00000443965.1:n.556-63873C>A
ENST00000541550.5:c.604C>A ENSP00000438321.1:p.Leu202Ile
NM_001123.3:c.658C>A NP_001114.2:p.Leu220Ile
NM_001202449.1:c.604C>A NP_001189378.1:p.Leu202Ile
NM_001202450.1:c.556-63873C>A NP_001189379.1:n.556-63873C>A
NM_006721.3:c.709C>A NP_006712.2:p.Leu237Ile
NR_120673.1:n.259+2357G>T
XM_011539297.1:c.625C>A XP_011537599.1:p.Leu209Ile
XM_017015698.1:c.709C>A XP_016871187.1:p.Leu237Ile
XM_017015699.1:c.514C>A XP_016871188.1:p.Leu172Ile
XM_017015700.1:c.709C>A XP_016871189.1:p.Leu237Ile
XM_017015701.1:c.505-63873C>A XP_016871190.1:n.505-63873C>A
XM_017015702.1:c.658C>A XP_016871191.1:p.Leu220Ile
XM_017015703.2:c.433C>A XP_016871192.1:p.Leu145Ile
XM_017015704.1:c.709C>A XP_016871193.1:p.Leu237Ile
XM_017015705.1:c.556-63873C>A XP_016871194.1:n.556-63873C>A
XM_017015706.1:c.658C>A XP_016871195.1:p.Leu220Ile
NM_001369123.1:c.709C>A NP_001356052.1:p.Leu237Ile
NM_001369124.1:c.505-63873C>A NP_001356053.1:n.505-63873C>A
NM_006721.4:c.709C>A MANE Select NP_006712.2:p.Leu237Ile
NM_001123.4:c.658C>A NP_001114.2:p.Leu220Ile
NM_001202449.2:c.604C>A NP_001189378.1:p.Leu202Ile
NM_001202450.2:c.556-63873C>A NP_001189379.1:n.556-63873C>A