Canonical Allele Identifier: CA1432976765

Gene: GAK

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.858525C= , CM000666.2:g.858525C=	GRCh38
NC_000004.11:g.852313C= , CM000666.1:g.852313C=	GRCh37
NC_000004.10:g.842313C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005255.4:c.3283+1081G= MANE Select	NP_005246.2:n.3283+1081G=
ENST00000314167.9:c.3283+1081G= MANE Select	ENSP00000314499.4:n.3283+1081G=
NM_001286833.1:c.2989+1081G=	NP_001273762.1:n.2989+1081G=
NM_001318134.1:c.3046+1081G=	NP_001305063.1:n.3046+1081G=
NM_001318134.2:c.3046+1081G=	NP_001305063.1:n.3046+1081G=
NM_005255.2:c.3283+1081G=	NP_005246.2:n.3283+1081G=
NM_005255.3:c.3283+1081G=	NP_005246.2:n.3283+1081G=
ENST00000314167.8:c.3283+1081G=	ENSP00000314499.4:n.3283+1081G=
ENST00000509566.1:n.1737+1081G=
ENST00000510799.1:c.641+1081G=
ENST00000511163.5:c.3046+1081G=	ENSP00000421361.1:n.3046+1081G=
ENST00000511980.5:c.750+837G=
ENST00000515868.5:n.2191-6551G=
ENST00000618573.4:c.598+1081G=	ENSP00000484475.1:n.598+1081G=
XM_005272268.1:c.3250+1081G=	XP_005272325.1:n.3250+1081G=
XM_005272268.2:c.3250+1081G=	XP_005272325.1:n.3250+1081G=
XM_005272270.1:c.3283+1081G=	XP_005272327.1:n.3283+1081G=
XM_005272270.2:c.3283+1081G=	XP_005272327.1:n.3283+1081G=
XM_011513425.1:c.3415+837G=	XP_011511727.1:n.3415+837G=
XM_011513425.2:c.3415+837G=	XP_011511727.1:n.3415+837G=
XM_011513426.1:c.3382+837G=	XP_011511728.1:n.3382+837G=
XM_011513426.2:c.3382+837G=	XP_011511728.1:n.3382+837G=
XM_011513427.1:c.3325+837G=	XP_011511729.1:n.3325+837G=
XM_011513427.2:c.3325+837G=	XP_011511729.1:n.3325+837G=
XM_011513428.1:c.3268+837G=	XP_011511730.1:n.3268+837G=
XM_011513428.2:c.3268+837G=	XP_011511730.1:n.3268+837G=
XM_011513429.1:c.3229+837G=	XP_011511731.1:n.3229+837G=
XM_011513429.2:c.3229+837G=	XP_011511731.1:n.3229+837G=
XM_011513430.1:c.3178+837G=	XP_011511732.1:n.3178+837G=
XM_011513431.1:c.3167-6551G=	XP_011511733.1:n.3167-6551G=
XM_011513431.2:c.3167-6551G=	XP_011511733.1:n.3167-6551G=
XM_011513432.1:c.3151+837G=	XP_011511734.1:n.3151+837G=
XM_011513432.2:c.3151+837G=	XP_011511734.1:n.3151+837G=
XM_011513433.1:c.3046+1081G=	XP_011511735.1:n.3046+1081G=
XM_011513434.1:c.3007+837G=	XP_011511736.1:n.3007+837G=
XM_011513434.2:c.3007+837G=	XP_011511736.1:n.3007+837G=
XM_017007991.1:c.3193+1081G=	XP_016863480.1:n.3193+1081G=
XM_017007992.1:c.3088+837G=	XP_016863481.1:n.3088+837G=
XM_017007993.1:c.3007+837G=	XP_016863482.1:n.3007+837G=
XM_017007994.1:c.3167-6551G=	XP_016863483.1:n.3167-6551G=
XM_017007995.1:c.2743+837G=	XP_016863484.1:n.2743+837G=