Canonical Allele Identifier: CA2184878307

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208390T= , CM000677.2:g.68208390T=	GRCh38
NC_000015.9:g.68500728T= , CM000677.1:g.68500728T=	GRCh37
NC_000015.8:g.66287782T=	NCBI36
NG_008764.2:g.53822A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.686A= MANE Select	ENSP00000249806.5:p.Gln229=
ENST00000562767.2:c.84-10762A=	ENSP00000456336.1:n.84-10762A=
ENST00000563917.2:n.528A=
ENST00000565471.6:c.227A=	ENSP00000457384.1:p.Gln76=
ENST00000635747.1:c.*589A=	ENSP00000490627.1:n.*589A=
ENST00000636212.1:c.*356A=	ENSP00000489851.1:n.*356A=
ENST00000636674.1:n.1788A=
ENST00000636964.1:n.2214A=
ENST00000637054.1:c.198+10146A=	ENSP00000490807.1:n.198+10146A=
ENST00000637329.1:c.655A=
ENST00000637450.1:c.*340A=	ENSP00000490204.1:n.*340A=
ENST00000637494.1:c.398A=	ENSP00000490057.1:p.Gln133=
ENST00000637667.1:c.587A=	ENSP00000489843.1:p.Gln196=
ENST00000637823.1:c.511A=
ENST00000637888.1:c.198+10146A=	ENSP00000490546.1:n.198+10146A=
ENST00000638076.1:c.*289A=	ENSP00000490373.1:n.*289A=
ENST00000638144.1:n.329A=
ENST00000646164.1:c.39-8709A=
ENST00000249806.9:c.686A=	ENSP00000249806.5:p.Gln229=
ENST00000538696.5:c.782A=	ENSP00000445770.1:p.Gln261=
ENST00000562767.1:c.84-10762A=	ENSP00000456336.1:n.84-10762A=
ENST00000564752.1:c.*70A=	ENSP00000457822.1:n.*70A=
ENST00000565471.5:c.227A=	ENSP00000457384.1:p.Gln76=
ENST00000566347.5:c.497A=	ENSP00000457783.1:p.Gln166=
ENST00000567060.5:c.*84A=	ENSP00000454818.1:n.*84A=
NM_017882.2:c.686A=	NP_060352.1:p.Gln229=
NM_017882.3:c.686A= MANE Select	NP_060352.1:p.Gln229=