Canonical Allele Identifier: CA2184879603

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209709G= , CM000677.2:g.68209709G=	GRCh38
NC_000015.9:g.68502047G= , CM000677.1:g.68502047G=	GRCh37
NC_000015.8:g.66289101G=	NCBI36
NG_008764.2:g.52503C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.593C= MANE Select	ENSP00000249806.5:p.Thr198=
ENST00000562767.2:c.84-12081C=	ENSP00000456336.1:n.84-12081C=
ENST00000563917.2:n.435C=
ENST00000565471.6:c.134C=	ENSP00000457384.1:p.Thr45=
ENST00000635747.1:c.*496C=	ENSP00000490627.1:n.*496C=
ENST00000636212.1:c.*263C=	ENSP00000489851.1:n.*263C=
ENST00000636314.1:c.289C=	ENSP00000490295.1:p.Leu97=
ENST00000636674.1:n.1695C=
ENST00000636964.1:n.2121C=
ENST00000637054.1:c.198+8827C=	ENSP00000490807.1:n.198+8827C=
ENST00000637223.1:c.*307C=	ENSP00000490010.1:n.*307C=
ENST00000637329.1:c.562C=
ENST00000637450.1:c.*247C=	ENSP00000490204.1:n.*247C=
ENST00000637494.1:c.305C=	ENSP00000490057.1:p.Thr102=
ENST00000637667.1:c.494C=	ENSP00000489843.1:p.Thr165=
ENST00000637823.1:c.418C=
ENST00000637888.1:c.198+8827C=	ENSP00000490546.1:n.198+8827C=
ENST00000638076.1:c.*196C=	ENSP00000490373.1:n.*196C=
ENST00000638144.1:n.236C=
ENST00000646164.1:c.38+8827C=
ENST00000249806.9:c.593C=	ENSP00000249806.5:p.Thr198=
ENST00000538696.5:c.689C=	ENSP00000445770.1:p.Thr230=
ENST00000562767.1:c.84-12081C=	ENSP00000456336.1:n.84-12081C=
ENST00000563917.1:n.493C=
ENST00000564752.1:c.619C=	ENSP00000457822.1:p.Leu207=
ENST00000565471.5:c.134C=	ENSP00000457384.1:p.Thr45=
ENST00000566347.5:c.404C=	ENSP00000457783.1:p.Thr135=
ENST00000567060.5:c.309C=	ENSP00000454818.1:p.Tyr103=
NM_017882.2:c.593C=	NP_060352.1:p.Thr198=
XR_931861.1:n.815C=
NM_017882.3:c.593C= MANE Select	NP_060352.1:p.Thr198=