Canonical Allele Identifier: CA2629162352

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207798-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207798C>A , CM000677.2:g.68207798C>A	GRCh38
NC_000015.9:g.68500136C>A , CM000677.1:g.68500136C>A	GRCh37
NC_000015.8:g.66287190C>A	NCBI36
NG_008764.2:g.54414G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*342G>T MANE Select	ENSP00000249806.5:n.*342G>T
ENST00000562767.2:c.84-10170G>T	ENSP00000456336.1:n.84-10170G>T
ENST00000565471.6:c.*342G>T	ENSP00000457384.1:n.*342G>T
ENST00000636964.1:n.2806G>T
ENST00000637054.1:c.199-10170G>T	ENSP00000490807.1:n.199-10170G>T
ENST00000637888.1:c.199-10170G>T	ENSP00000490546.1:n.199-10170G>T
ENST00000638076.1:c.*881G>T	ENSP00000490373.1:n.*881G>T
ENST00000646164.1:c.39-8117G>T
ENST00000249806.9:c.*342G>T	ENSP00000249806.5:n.*342G>T
ENST00000562767.1:c.84-10170G>T	ENSP00000456336.1:n.84-10170G>T
ENST00000565471.5:c.*342G>T	ENSP00000457384.1:n.*342G>T
NM_017882.2:c.*342G>T	NP_060352.1:n.*342G>T
NM_017882.3:c.*342G>T MANE Select	NP_060352.1:n.*342G>T