Canonical Allele Identifier: CA2569314647

Gene: GAK

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.931420C>T , CM000666.2:g.931420C>T	GRCh38
NC_000004.11:g.925208C>T , CM000666.1:g.925208C>T	GRCh37
NC_000004.10:g.915208C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314167.9:c.145+623G>A MANE Select	ENSP00000314499.4:n.145+623G>A
ENST00000314167.8:c.145+623G>A	ENSP00000314499.4:n.145+623G>A
ENST00000502656.5:c.145+623G>A	ENSP00000424701.1:n.145+623G>A
ENST00000505819.5:c.145+623G>A	ENSP00000426908.1:n.145+623G>A
ENST00000507580.5:c.145+623G>A	ENSP00000426728.1:n.145+623G>A
ENST00000511163.5:c.145+623G>A	ENSP00000421361.1:n.145+623G>A
ENST00000512325.3:c.145+623G>A	ENSP00000421814.1:n.145+623G>A
ENST00000513935.1:n.178+623G>A
ENST00000618573.4:c.117+651G>A	ENSP00000484475.1:n.117+651G>A
ENST00000628912.1:c.145+623G>A	ENSP00000486984.1:n.145+623G>A
NM_001286833.1:c.145+623G>A	NP_001273762.1:n.145+623G>A
NM_005255.2:c.145+623G>A	NP_005246.2:n.145+623G>A
XM_005272268.1:c.145+623G>A	XP_005272325.1:n.145+623G>A
XM_005272270.1:c.145+623G>A	XP_005272327.1:n.145+623G>A
XM_011513425.1:c.145+623G>A	XP_011511727.1:n.145+623G>A
XM_011513426.1:c.145+623G>A	XP_011511728.1:n.145+623G>A
XM_011513427.1:c.145+623G>A	XP_011511729.1:n.145+623G>A
XM_011513428.1:c.145+623G>A	XP_011511730.1:n.145+623G>A
XM_011513430.1:c.145+623G>A	XP_011511732.1:n.145+623G>A
XM_011513431.1:c.145+623G>A	XP_011511733.1:n.145+623G>A
XM_011513433.1:c.145+623G>A	XP_011511735.1:n.145+623G>A
XM_011513434.1:c.-89+623G>A	XP_011511736.1:n.-89+623G>A
NM_001318134.1:c.145+623G>A	NP_001305063.1:n.145+623G>A
NM_005255.3:c.145+623G>A	NP_005246.2:n.145+623G>A
XM_005272268.2:c.145+623G>A	XP_005272325.1:n.145+623G>A
XM_005272270.2:c.145+623G>A	XP_005272327.1:n.145+623G>A
XM_011513425.2:c.145+623G>A	XP_011511727.1:n.145+623G>A
XM_011513426.2:c.145+623G>A	XP_011511728.1:n.145+623G>A
XM_011513427.2:c.145+623G>A	XP_011511729.1:n.145+623G>A
XM_011513428.2:c.145+623G>A	XP_011511730.1:n.145+623G>A
XM_011513431.2:c.145+623G>A	XP_011511733.1:n.145+623G>A
XM_011513434.2:c.-89+623G>A	XP_011511736.1:n.-89+623G>A
XM_017007991.1:c.145+623G>A	XP_016863480.1:n.145+623G>A
XM_017007992.1:c.145+623G>A	XP_016863481.1:n.145+623G>A
XM_017007994.1:c.145+623G>A	XP_016863483.1:n.145+623G>A
XM_017007995.1:c.-385+623G>A	XP_016863484.1:n.-385+623G>A
NM_005255.4:c.145+623G>A MANE Select	NP_005246.2:n.145+623G>A
NM_001318134.2:c.145+623G>A	NP_001305063.1:n.145+623G>A