Canonical Allele Identifier: CA2184872524

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211729G= , CM000677.2:g.68211729G=	GRCh38
NC_000015.9:g.68504067G= , CM000677.1:g.68504067G=	GRCh37
NC_000015.8:g.66291121G=	NCBI36
NG_008764.2:g.50483C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.432C= MANE Select	ENSP00000249806.5:p.His144=
ENST00000562767.2:c.84-14101C=	ENSP00000456336.1:n.84-14101C=
ENST00000563917.2:n.274C=
ENST00000565471.6:c.84-1970C=	ENSP00000457384.1:n.84-1970C=
ENST00000635747.1:c.*335C=	ENSP00000490627.1:n.*335C=
ENST00000636212.1:c.310C=	ENSP00000489851.1:p.Pro104=
ENST00000636314.1:c.183-411C=	ENSP00000490295.1:n.183-411C=
ENST00000636674.1:n.1415C=
ENST00000636964.1:n.1604C=
ENST00000637054.1:c.198+6807C=	ENSP00000490807.1:n.198+6807C=
ENST00000637223.1:c.*201-411C=	ENSP00000490010.1:n.*201-411C=
ENST00000637329.1:c.401C=
ENST00000637450.1:c.*86C=	ENSP00000490204.1:n.*86C=
ENST00000637494.1:c.199-411C=	ENSP00000490057.1:n.199-411C=
ENST00000637667.1:c.333C=	ENSP00000489843.1:p.His111=
ENST00000637823.1:c.224-86C=
ENST00000637888.1:c.198+6807C=	ENSP00000490546.1:n.198+6807C=
ENST00000638076.1:c.432C=	ENSP00000490373.1:p.His144=
ENST00000638144.1:n.130-411C=
ENST00000646164.1:c.38+6807C=
ENST00000249806.9:c.432C=	ENSP00000249806.5:p.His144=
ENST00000538696.5:c.528C=	ENSP00000445770.1:p.His176=
ENST00000562767.1:c.84-14101C=	ENSP00000456336.1:n.84-14101C=
ENST00000563917.1:n.213C=
ENST00000564752.1:c.432C=	ENSP00000457822.1:p.His144=
ENST00000565471.5:c.84-1970C=	ENSP00000457384.1:n.84-1970C=
ENST00000566347.5:c.298-411C=	ENSP00000457783.1:n.298-411C=
ENST00000567060.5:c.298-2009C=	ENSP00000454818.1:n.298-2009C=
NM_017882.2:c.432C=	NP_060352.1:p.His144=
XR_931861.1:n.535C=
NM_017882.3:c.432C= MANE Select	NP_060352.1:p.His144=