Canonical Allele Identifier: CA2797561

Gene: GAK

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.865228C>T , CM000666.2:g.865228C>T	GRCh38
NC_000004.11:g.859016C>T , CM000666.1:g.859016C>T	GRCh37
NC_000004.10:g.849016C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005255.4:c.3060G>A MANE Select	NP_005246.2:p.Glu1020=
ENST00000314167.9:c.3060G>A MANE Select	ENSP00000314499.4:p.Glu1020=
NM_001286833.1:c.2766G>A	NP_001273762.1:p.Glu922=
NM_001318134.1:c.2823G>A	NP_001305063.1:p.Glu941=
NM_001318134.2:c.2823G>A	NP_001305063.1:p.Glu941=
NM_005255.2:c.3060G>A	NP_005246.2:p.Glu1020=
NM_005255.3:c.3060G>A	NP_005246.2:p.Glu1020=
ENST00000314167.8:c.3060G>A	ENSP00000314499.4:p.Glu1020=
ENST00000509566.1:n.1514G>A
ENST00000510799.1:c.418G>A
ENST00000511163.5:c.2823G>A	ENSP00000421361.1:p.Glu941=
ENST00000511980.5:c.395G>A
ENST00000515868.5:n.2084G>A
ENST00000618573.4:c.375G>A	ENSP00000484475.1:p.Glu125=
XM_005272268.1:c.3027G>A	XP_005272325.1:p.Glu1009=
XM_005272268.2:c.3027G>A	XP_005272325.1:p.Glu1009=
XM_005272270.1:c.3060G>A	XP_005272327.1:p.Glu1020=
XM_005272270.2:c.3060G>A	XP_005272327.1:p.Glu1020=
XM_011513425.1:c.3060G>A	XP_011511727.1:p.Glu1020=
XM_011513425.2:c.3060G>A	XP_011511727.1:p.Glu1020=
XM_011513426.1:c.3027G>A	XP_011511728.1:p.Glu1009=
XM_011513426.2:c.3027G>A	XP_011511728.1:p.Glu1009=
XM_011513427.1:c.2970G>A	XP_011511729.1:p.Glu990=
XM_011513427.2:c.2970G>A	XP_011511729.1:p.Glu990=
XM_011513428.1:c.2913G>A	XP_011511730.1:p.Glu971=
XM_011513428.2:c.2913G>A	XP_011511730.1:p.Glu971=
XM_011513429.1:c.2874G>A	XP_011511731.1:p.Glu958=
XM_011513429.2:c.2874G>A	XP_011511731.1:p.Glu958=
XM_011513430.1:c.2823G>A	XP_011511732.1:p.Glu941=
XM_011513431.1:c.3060G>A	XP_011511733.1:p.Glu1020=
XM_011513431.2:c.3060G>A	XP_011511733.1:p.Glu1020=
XM_011513432.1:c.2796G>A	XP_011511734.1:p.Glu932=
XM_011513432.2:c.2796G>A	XP_011511734.1:p.Glu932=
XM_011513433.1:c.2823G>A	XP_011511735.1:p.Glu941=
XM_011513434.1:c.2652G>A	XP_011511736.1:p.Glu884=
XM_011513434.2:c.2652G>A	XP_011511736.1:p.Glu884=
XM_017007991.1:c.2970G>A	XP_016863480.1:p.Glu990=
XM_017007992.1:c.2733G>A	XP_016863481.1:p.Glu911=
XM_017007993.1:c.2652G>A	XP_016863482.1:p.Glu884=
XM_017007994.1:c.3060G>A	XP_016863483.1:p.Glu1020=
XM_017007995.1:c.2388G>A	XP_016863484.1:p.Glu796=