Canonical Allele Identifier: CA2184878350

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208407G= , CM000677.2:g.68208407G=	GRCh38
NC_000015.9:g.68500745G= , CM000677.1:g.68500745G=	GRCh37
NC_000015.8:g.66287799G=	NCBI36
NG_008764.2:g.53805C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.669C= MANE Select	ENSP00000249806.5:p.Tyr223=
ENST00000562767.2:c.84-10779C=	ENSP00000456336.1:n.84-10779C=
ENST00000563917.2:n.511C=
ENST00000565471.6:c.210C=	ENSP00000457384.1:p.Tyr70=
ENST00000635747.1:c.*572C=	ENSP00000490627.1:n.*572C=
ENST00000636212.1:c.*339C=	ENSP00000489851.1:n.*339C=
ENST00000636674.1:n.1771C=
ENST00000636964.1:n.2197C=
ENST00000637054.1:c.198+10129C=	ENSP00000490807.1:n.198+10129C=
ENST00000637329.1:c.638C=
ENST00000637450.1:c.*323C=	ENSP00000490204.1:n.*323C=
ENST00000637494.1:c.381C=	ENSP00000490057.1:p.Tyr127=
ENST00000637667.1:c.570C=	ENSP00000489843.1:p.Tyr190=
ENST00000637823.1:c.494C=
ENST00000637888.1:c.198+10129C=	ENSP00000490546.1:n.198+10129C=
ENST00000638076.1:c.*272C=	ENSP00000490373.1:n.*272C=
ENST00000638144.1:n.312C=
ENST00000646164.1:c.39-8726C=
ENST00000249806.9:c.669C=	ENSP00000249806.5:p.Tyr223=
ENST00000538696.5:c.765C=	ENSP00000445770.1:p.Tyr255=
ENST00000562767.1:c.84-10779C=	ENSP00000456336.1:n.84-10779C=
ENST00000564752.1:c.*53C=	ENSP00000457822.1:n.*53C=
ENST00000565471.5:c.210C=	ENSP00000457384.1:p.Tyr70=
ENST00000566347.5:c.480C=	ENSP00000457783.1:p.Tyr160=
ENST00000567060.5:c.*67C=	ENSP00000454818.1:n.*67C=
NM_017882.2:c.669C=	NP_060352.1:p.Tyr223=
XR_931861.1:n.891C=
NM_017882.3:c.669C= MANE Select	NP_060352.1:p.Tyr223=