Canonical Allele Identifier: CA2629163810

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208139-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208139C>T , CM000677.2:g.68208139C>T	GRCh38
NC_000015.9:g.68500477C>T , CM000677.1:g.68500477C>T	GRCh37
NC_000015.8:g.66287531C>T	NCBI36
NG_008764.2:g.54073G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*1G>A MANE Select	ENSP00000249806.5:n.*1G>A
ENST00000562767.2:c.84-10511G>A	ENSP00000456336.1:n.84-10511G>A
ENST00000565471.6:c.*1G>A	ENSP00000457384.1:n.*1G>A
ENST00000635747.1:c.*840G>A	ENSP00000490627.1:n.*840G>A
ENST00000636964.1:n.2465G>A
ENST00000637054.1:c.198+10397G>A	ENSP00000490807.1:n.198+10397G>A
ENST00000637329.1:c.906G>A
ENST00000637494.1:c.*1G>A	ENSP00000490057.1:n.*1G>A
ENST00000637888.1:c.198+10397G>A	ENSP00000490546.1:n.198+10397G>A
ENST00000638076.1:c.*540G>A	ENSP00000490373.1:n.*540G>A
ENST00000646164.1:c.39-8458G>A
ENST00000249806.9:c.*1G>A	ENSP00000249806.5:n.*1G>A
ENST00000538696.5:c.*1G>A	ENSP00000445770.1:n.*1G>A
ENST00000562767.1:c.84-10511G>A	ENSP00000456336.1:n.84-10511G>A
ENST00000565471.5:c.*1G>A	ENSP00000457384.1:n.*1G>A
ENST00000566347.5:c.*1G>A	ENSP00000457783.1:n.*1G>A
ENST00000567060.5:c.*335G>A	ENSP00000454818.1:n.*335G>A
NM_017882.2:c.*1G>A	NP_060352.1:n.*1G>A
NM_017882.3:c.*1G>A MANE Select	NP_060352.1:n.*1G>A