Canonical Allele Identifier: CA2797137
Gene: GAK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.849748G>A , CM000666.2:g.849748G>A GRCh38
NC_000004.11:g.843536G>A , CM000666.1:g.843536G>A GRCh37
NC_000004.10:g.833536G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005255.4:c.3861C>T MANE Select NP_005246.2:p.His1287=
ENST00000314167.9:c.3861C>T MANE Select ENSP00000314499.4:p.His1287=
NM_001286833.1:c.3567C>T NP_001273762.1:p.His1189=
NM_001318134.1:c.3624C>T NP_001305063.1:p.His1208=
NM_001318134.2:c.3624C>T NP_001305063.1:p.His1208=
NM_005255.2:c.3861C>T NP_005246.2:p.His1287=
NM_005255.3:c.3861C>T NP_005246.2:p.His1287=
ENST00000314167.8:c.3861C>T ENSP00000314499.4:p.His1287=
ENST00000502799.1:n.1809C>T
ENST00000504668.5:c.458C>T ENSP00000424553.1:n.458C>T
ENST00000509566.1:n.2656C>T
ENST00000511163.5:c.3624C>T ENSP00000421361.1:p.His1208=
ENST00000511345.5:n.3097C>T
ENST00000511980.5:c.1328C>T
ENST00000515868.5:n.3433C>T
ENST00000618573.4:c.1176C>T ENSP00000484475.1:p.His392=
XM_005272268.1:c.3828C>T XP_005272325.1:p.His1276=
XM_005272268.2:c.3828C>T XP_005272325.1:p.His1276=
XM_005272270.1:c.3636C>T XP_005272327.1:p.His1212=
XM_005272270.2:c.3636C>T XP_005272327.1:p.His1212=
XM_011513425.1:c.3993C>T XP_011511727.1:p.His1331=
XM_011513425.2:c.3993C>T XP_011511727.1:p.His1331=
XM_011513426.1:c.3960C>T XP_011511728.1:p.His1320=
XM_011513426.2:c.3960C>T XP_011511728.1:p.His1320=
XM_011513427.1:c.3903C>T XP_011511729.1:p.His1301=
XM_011513427.2:c.3903C>T XP_011511729.1:p.His1301=
XM_011513428.1:c.3846C>T XP_011511730.1:p.His1282=
XM_011513428.2:c.3846C>T XP_011511730.1:p.His1282=
XM_011513429.1:c.3807C>T XP_011511731.1:p.His1269=
XM_011513429.2:c.3807C>T XP_011511731.1:p.His1269=
XM_011513430.1:c.3756C>T XP_011511732.1:p.His1252=
XM_011513431.1:c.3744C>T XP_011511733.1:p.His1248=
XM_011513431.2:c.3744C>T XP_011511733.1:p.His1248=
XM_011513432.1:c.3729C>T XP_011511734.1:p.His1243=
XM_011513432.2:c.3729C>T XP_011511734.1:p.His1243=
XM_011513433.1:c.3624C>T XP_011511735.1:p.His1208=
XM_011513434.1:c.3585C>T XP_011511736.1:p.His1195=
XM_011513434.2:c.3585C>T XP_011511736.1:p.His1195=
XM_017007991.1:c.3771C>T XP_016863480.1:p.His1257=
XM_017007992.1:c.3666C>T XP_016863481.1:p.His1222=
XM_017007993.1:c.3585C>T XP_016863482.1:p.His1195=
XM_017007995.1:c.3321C>T XP_016863484.1:p.His1107=