Canonical Allele Identifier: CA2184878048

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208282G= , CM000677.2:g.68208282G=	GRCh38
NC_000015.9:g.68500620G= , CM000677.1:g.68500620G=	GRCh37
NC_000015.8:g.66287674G=	NCBI36
NG_008764.2:g.53930C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.794C= MANE Select	ENSP00000249806.5:p.Ser265=
ENST00000562767.2:c.84-10654C=	ENSP00000456336.1:n.84-10654C=
ENST00000565471.6:c.335C=	ENSP00000457384.1:p.Ser112=
ENST00000635747.1:c.*697C=	ENSP00000490627.1:n.*697C=
ENST00000636212.1:c.*464C=	ENSP00000489851.1:n.*464C=
ENST00000636674.1:n.1896C=
ENST00000636964.1:n.2322C=
ENST00000637054.1:c.198+10254C=	ENSP00000490807.1:n.198+10254C=
ENST00000637329.1:c.763C=
ENST00000637450.1:c.*448C=	ENSP00000490204.1:n.*448C=
ENST00000637494.1:c.506C=	ENSP00000490057.1:p.Ser169=
ENST00000637667.1:c.695C=	ENSP00000489843.1:p.Ser232=
ENST00000637823.1:c.619C=
ENST00000637888.1:c.198+10254C=	ENSP00000490546.1:n.198+10254C=
ENST00000638076.1:c.*397C=	ENSP00000490373.1:n.*397C=
ENST00000638144.1:n.437C=
ENST00000646164.1:c.39-8601C=
ENST00000249806.9:c.794C=	ENSP00000249806.5:p.Ser265=
ENST00000538696.5:c.890C=	ENSP00000445770.1:p.Ser297=
ENST00000562767.1:c.84-10654C=	ENSP00000456336.1:n.84-10654C=
ENST00000565471.5:c.335C=	ENSP00000457384.1:p.Ser112=
ENST00000566347.5:c.605C=	ENSP00000457783.1:p.Ser202=
ENST00000567060.5:c.*192C=	ENSP00000454818.1:n.*192C=
NM_017882.2:c.794C=	NP_060352.1:p.Ser265=
NM_017882.3:c.794C= MANE Select	NP_060352.1:p.Ser265=