Canonical Allele Identifier: CA2184872376

Gene: CLN6

Linked Data

• dbSNP Id: rs549597781

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211663A>T , CM000677.2:g.68211663A>T	GRCh38
NC_000015.9:g.68504001A>T , CM000677.1:g.68504001A>T	GRCh37
NC_000015.8:g.66291055A>T	NCBI36
NG_008764.2:g.50549T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+12T>A MANE Select	ENSP00000249806.5:n.486+12T>A
ENST00000562767.2:c.84-14035T>A	ENSP00000456336.1:n.84-14035T>A
ENST00000563917.2:n.328+12T>A
ENST00000565471.6:c.84-1904T>A	ENSP00000457384.1:n.84-1904T>A
ENST00000635747.1:c.*389+12T>A	ENSP00000490627.1:n.*389+12T>A
ENST00000636212.1:c.*49T>A	ENSP00000489851.1:n.*49T>A
ENST00000636314.1:c.183-345T>A	ENSP00000490295.1:n.183-345T>A
ENST00000636674.1:n.1481T>A
ENST00000636964.1:n.1670T>A
ENST00000637054.1:c.198+6873T>A	ENSP00000490807.1:n.198+6873T>A
ENST00000637223.1:c.*201-345T>A	ENSP00000490010.1:n.*201-345T>A
ENST00000637329.1:c.455+12T>A
ENST00000637450.1:c.*140+12T>A	ENSP00000490204.1:n.*140+12T>A
ENST00000637494.1:c.199-345T>A	ENSP00000490057.1:n.199-345T>A
ENST00000637667.1:c.387+12T>A	ENSP00000489843.1:n.387+12T>A
ENST00000637823.1:c.224-20T>A
ENST00000637888.1:c.198+6873T>A	ENSP00000490546.1:n.198+6873T>A
ENST00000638076.1:c.498T>A	ENSP00000490373.1:p.Pro166=
ENST00000638144.1:n.130-345T>A
ENST00000646164.1:c.38+6873T>A
ENST00000249806.9:c.486+12T>A	ENSP00000249806.5:n.486+12T>A
ENST00000538696.5:c.582+12T>A	ENSP00000445770.1:n.582+12T>A
ENST00000562767.1:c.84-14035T>A	ENSP00000456336.1:n.84-14035T>A
ENST00000563917.1:n.279T>A
ENST00000564752.1:c.498T>A	ENSP00000457822.1:p.Pro166=
ENST00000565471.5:c.84-1904T>A	ENSP00000457384.1:n.84-1904T>A
ENST00000566347.5:c.298-345T>A	ENSP00000457783.1:n.298-345T>A
ENST00000567060.5:c.298-1943T>A	ENSP00000454818.1:n.298-1943T>A
NM_017882.2:c.486+12T>A	NP_060352.1:n.486+12T>A
XR_931861.1:n.601T>A
NM_017882.3:c.486+12T>A MANE Select	NP_060352.1:n.486+12T>A