Canonical Allele Identifier: CA2797290
Gene: GAK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.850940A>C , CM000666.2:g.850940A>C GRCh38
NC_000004.11:g.844728A>C , CM000666.1:g.844728A>C GRCh37
NC_000004.10:g.834728A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005255.4:c.3653T>G MANE Select NP_005246.2:p.Leu1218Arg
ENST00000314167.9:c.3653T>G MANE Select ENSP00000314499.4:p.Leu1218Arg
NM_001286833.1:c.3359T>G NP_001273762.1:p.Leu1120Arg
NM_001318134.1:c.3416T>G NP_001305063.1:p.Leu1139Arg
NM_001318134.2:c.3416T>G NP_001305063.1:p.Leu1139Arg
NM_005255.2:c.3653T>G NP_005246.2:p.Leu1218Arg
NM_005255.3:c.3653T>G NP_005246.2:p.Leu1218Arg
ENST00000314167.8:c.3653T>G ENSP00000314499.4:p.Leu1218Arg
ENST00000502799.1:n.734T>G
ENST00000504668.5:c.250T>G ENSP00000424553.1:n.250T>G
ENST00000509566.1:n.2107T>G
ENST00000511163.5:c.3416T>G ENSP00000421361.1:p.Leu1139Arg
ENST00000511345.5:n.2889T>G
ENST00000511980.5:c.1120T>G
ENST00000515868.5:n.3225T>G
ENST00000618573.4:c.968T>G ENSP00000484475.1:p.Leu323Arg
XM_005272268.1:c.3620T>G XP_005272325.1:p.Leu1207Arg
XM_005272268.2:c.3620T>G XP_005272325.1:p.Leu1207Arg
XM_005272270.1:c.3428T>G XP_005272327.1:p.Leu1143Arg
XM_005272270.2:c.3428T>G XP_005272327.1:p.Leu1143Arg
XM_011513425.1:c.3785T>G XP_011511727.1:p.Leu1262Arg
XM_011513425.2:c.3785T>G XP_011511727.1:p.Leu1262Arg
XM_011513426.1:c.3752T>G XP_011511728.1:p.Leu1251Arg
XM_011513426.2:c.3752T>G XP_011511728.1:p.Leu1251Arg
XM_011513427.1:c.3695T>G XP_011511729.1:p.Leu1232Arg
XM_011513427.2:c.3695T>G XP_011511729.1:p.Leu1232Arg
XM_011513428.1:c.3638T>G XP_011511730.1:p.Leu1213Arg
XM_011513428.2:c.3638T>G XP_011511730.1:p.Leu1213Arg
XM_011513429.1:c.3599T>G XP_011511731.1:p.Leu1200Arg
XM_011513429.2:c.3599T>G XP_011511731.1:p.Leu1200Arg
XM_011513430.1:c.3548T>G XP_011511732.1:p.Leu1183Arg
XM_011513431.1:c.3536T>G XP_011511733.1:p.Leu1179Arg
XM_011513431.2:c.3536T>G XP_011511733.1:p.Leu1179Arg
XM_011513432.1:c.3521T>G XP_011511734.1:p.Leu1174Arg
XM_011513432.2:c.3521T>G XP_011511734.1:p.Leu1174Arg
XM_011513433.1:c.3416T>G XP_011511735.1:p.Leu1139Arg
XM_011513434.1:c.3377T>G XP_011511736.1:p.Leu1126Arg
XM_011513434.2:c.3377T>G XP_011511736.1:p.Leu1126Arg
XM_017007991.1:c.3563T>G XP_016863480.1:p.Leu1188Arg
XM_017007992.1:c.3458T>G XP_016863481.1:p.Leu1153Arg
XM_017007993.1:c.3377T>G XP_016863482.1:p.Leu1126Arg
XM_017007995.1:c.3113T>G XP_016863484.1:p.Leu1038Arg