Canonical Allele Identifier: CA2184872593

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211758G= , CM000677.2:g.68211758G=	GRCh38
NC_000015.9:g.68504096G= , CM000677.1:g.68504096G=	GRCh37
NC_000015.8:g.66291150G=	NCBI36
NG_008764.2:g.50454C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.403C= MANE Select	ENSP00000249806.5:p.His135=
ENST00000562767.2:c.84-14130C=	ENSP00000456336.1:n.84-14130C=
ENST00000563917.2:n.245C=
ENST00000565471.6:c.84-1999C=	ENSP00000457384.1:n.84-1999C=
ENST00000635747.1:c.*306C=	ENSP00000490627.1:n.*306C=
ENST00000636212.1:c.298-17C=	ENSP00000489851.1:n.298-17C=
ENST00000636314.1:c.183-440C=	ENSP00000490295.1:n.183-440C=
ENST00000636674.1:n.1386C=
ENST00000636964.1:n.1575C=
ENST00000637054.1:c.198+6778C=	ENSP00000490807.1:n.198+6778C=
ENST00000637223.1:c.*201-440C=	ENSP00000490010.1:n.*201-440C=
ENST00000637329.1:c.372C=
ENST00000637450.1:c.*57C=	ENSP00000490204.1:n.*57C=
ENST00000637494.1:c.199-440C=	ENSP00000490057.1:n.199-440C=
ENST00000637667.1:c.304C=	ENSP00000489843.1:p.His102=
ENST00000637823.1:c.224-115C=
ENST00000637888.1:c.198+6778C=	ENSP00000490546.1:n.198+6778C=
ENST00000638076.1:c.403C=	ENSP00000490373.1:p.His135=
ENST00000638144.1:n.130-440C=
ENST00000646164.1:c.38+6778C=
ENST00000249806.9:c.403C=	ENSP00000249806.5:p.His135=
ENST00000538696.5:c.499C=	ENSP00000445770.1:p.His167=
ENST00000562767.1:c.84-14130C=	ENSP00000456336.1:n.84-14130C=
ENST00000563917.1:n.184C=
ENST00000564752.1:c.403C=	ENSP00000457822.1:p.His135=
ENST00000565471.5:c.84-1999C=	ENSP00000457384.1:n.84-1999C=
ENST00000566347.5:c.298-440C=	ENSP00000457783.1:n.298-440C=
ENST00000567060.5:c.298-2038C=	ENSP00000454818.1:n.298-2038C=
NM_017882.2:c.403C=	NP_060352.1:p.His135=
XR_931861.1:n.506C=
NM_017882.3:c.403C= MANE Select	NP_060352.1:p.His135=