Canonical Allele Identifier: CA2512172862

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209262C>A , CM000677.2:g.68209262C>A	GRCh38
NC_000015.9:g.68501600C>A , CM000677.1:g.68501600C>A	GRCh37
NC_000015.8:g.66288654C>A	NCBI36
NG_008764.2:g.52950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+375G>T MANE Select	ENSP00000249806.5:n.665+375G>T
ENST00000562767.2:c.84-11634G>T	ENSP00000456336.1:n.84-11634G>T
ENST00000563917.2:n.507+375G>T
ENST00000565471.6:c.206+375G>T	ENSP00000457384.1:n.206+375G>T
ENST00000635747.1:c.*568+375G>T	ENSP00000490627.1:n.*568+375G>T
ENST00000636212.1:c.*335+375G>T	ENSP00000489851.1:n.*335+375G>T
ENST00000636674.1:n.1767+375G>T
ENST00000636964.1:n.2193+375G>T
ENST00000637054.1:c.198+9274G>T	ENSP00000490807.1:n.198+9274G>T
ENST00000637329.1:c.634+375G>T
ENST00000637450.1:c.*319+375G>T	ENSP00000490204.1:n.*319+375G>T
ENST00000637494.1:c.377+375G>T	ENSP00000490057.1:n.377+375G>T
ENST00000637667.1:c.566+375G>T	ENSP00000489843.1:n.566+375G>T
ENST00000637823.1:c.490+375G>T
ENST00000637888.1:c.198+9274G>T	ENSP00000490546.1:n.198+9274G>T
ENST00000638076.1:c.*268+375G>T	ENSP00000490373.1:n.*268+375G>T
ENST00000638144.1:n.308+375G>T
ENST00000646164.1:c.38+9274G>T
ENST00000249806.9:c.665+375G>T	ENSP00000249806.5:n.665+375G>T
ENST00000538696.5:c.761+375G>T	ENSP00000445770.1:n.761+375G>T
ENST00000562767.1:c.84-11634G>T	ENSP00000456336.1:n.84-11634G>T
ENST00000564752.1:c.*49+375G>T	ENSP00000457822.1:n.*49+375G>T
ENST00000565471.5:c.206+375G>T	ENSP00000457384.1:n.206+375G>T
ENST00000566347.5:c.476+375G>T	ENSP00000457783.1:n.476+375G>T
ENST00000567060.5:c.*63+375G>T	ENSP00000454818.1:n.*63+375G>T
NM_017882.2:c.665+375G>T	NP_060352.1:n.665+375G>T
XR_931861.1:n.887+375G>T
NM_017882.3:c.665+375G>T MANE Select	NP_060352.1:n.665+375G>T