Canonical Allele Identifier: CA2629163137

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208091-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208091A>G , CM000677.2:g.68208091A>G	GRCh38
NC_000015.9:g.68500429A>G , CM000677.1:g.68500429A>G	GRCh37
NC_000015.8:g.66287483A>G	NCBI36
NG_008764.2:g.54121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*49T>C MANE Select	ENSP00000249806.5:n.*49T>C
ENST00000562767.2:c.84-10463T>C	ENSP00000456336.1:n.84-10463T>C
ENST00000565471.6:c.*49T>C	ENSP00000457384.1:n.*49T>C
ENST00000636964.1:n.2513T>C
ENST00000637054.1:c.198+10445T>C	ENSP00000490807.1:n.198+10445T>C
ENST00000637329.1:c.954T>C
ENST00000637888.1:c.198+10445T>C	ENSP00000490546.1:n.198+10445T>C
ENST00000638076.1:c.*588T>C	ENSP00000490373.1:n.*588T>C
ENST00000646164.1:c.39-8410T>C
ENST00000249806.9:c.*49T>C	ENSP00000249806.5:n.*49T>C
ENST00000538696.5:c.*49T>C	ENSP00000445770.1:n.*49T>C
ENST00000562767.1:c.84-10463T>C	ENSP00000456336.1:n.84-10463T>C
ENST00000565471.5:c.*49T>C	ENSP00000457384.1:n.*49T>C
ENST00000566347.5:c.*49T>C	ENSP00000457783.1:n.*49T>C
ENST00000567060.5:c.*383T>C	ENSP00000454818.1:n.*383T>C
NM_017882.2:c.*49T>C	NP_060352.1:n.*49T>C
NM_017882.3:c.*49T>C MANE Select	NP_060352.1:n.*49T>C