Canonical Allele Identifier: CA2629163802

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208127-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208127T>G , CM000677.2:g.68208127T>G	GRCh38
NC_000015.9:g.68500465T>G , CM000677.1:g.68500465T>G	GRCh37
NC_000015.8:g.66287519T>G	NCBI36
NG_008764.2:g.54085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*13A>C MANE Select	ENSP00000249806.5:n.*13A>C
ENST00000562767.2:c.84-10499A>C	ENSP00000456336.1:n.84-10499A>C
ENST00000565471.6:c.*13A>C	ENSP00000457384.1:n.*13A>C
ENST00000635747.1:c.*852A>C	ENSP00000490627.1:n.*852A>C
ENST00000636964.1:n.2477A>C
ENST00000637054.1:c.198+10409A>C	ENSP00000490807.1:n.198+10409A>C
ENST00000637329.1:c.918A>C
ENST00000637494.1:c.*13A>C	ENSP00000490057.1:n.*13A>C
ENST00000637888.1:c.198+10409A>C	ENSP00000490546.1:n.198+10409A>C
ENST00000638076.1:c.*552A>C	ENSP00000490373.1:n.*552A>C
ENST00000646164.1:c.39-8446A>C
ENST00000249806.9:c.*13A>C	ENSP00000249806.5:n.*13A>C
ENST00000538696.5:c.*13A>C	ENSP00000445770.1:n.*13A>C
ENST00000562767.1:c.84-10499A>C	ENSP00000456336.1:n.84-10499A>C
ENST00000565471.5:c.*13A>C	ENSP00000457384.1:n.*13A>C
ENST00000566347.5:c.*13A>C	ENSP00000457783.1:n.*13A>C
ENST00000567060.5:c.*347A>C	ENSP00000454818.1:n.*347A>C
NM_017882.2:c.*13A>C	NP_060352.1:n.*13A>C
NM_017882.3:c.*13A>C MANE Select	NP_060352.1:n.*13A>C