Canonical Allele Identifier: CA392971560

Gene: CLN6

Linked Data

• dbSNP Id: rs2093193360
• gnomAD v3: 15-68208170-G-C
• gnomAD v4: 15-68208170-G-C
• MyVariant Identifiers: chr15:g.68500508G>C (hg19) ; chr15:g.68208170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208170G>C , CM000677.2:g.68208170G>C	GRCh38
NC_000015.9:g.68500508G>C , CM000677.1:g.68500508G>C	GRCh37
NC_000015.8:g.66287562G>C	NCBI36
NG_008764.2:g.54042C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.906C>G MANE Select	ENSP00000249806.5:p.Phe302Leu
ENST00000562767.2:c.84-10542C>G	ENSP00000456336.1:n.84-10542C>G
ENST00000565471.6:c.447C>G	ENSP00000457384.1:p.Phe149Leu
ENST00000635747.1:c.*809C>G	ENSP00000490627.1:n.*809C>G
ENST00000636212.1:c.*576C>G	ENSP00000489851.1:n.*576C>G
ENST00000636964.1:n.2434C>G
ENST00000637054.1:c.198+10366C>G	ENSP00000490807.1:n.198+10366C>G
ENST00000637329.1:c.875C>G
ENST00000637494.1:c.618C>G	ENSP00000490057.1:p.Phe206Leu
ENST00000637888.1:c.198+10366C>G	ENSP00000490546.1:n.198+10366C>G
ENST00000638076.1:c.*509C>G	ENSP00000490373.1:n.*509C>G
ENST00000638144.1:n.549C>G
ENST00000646164.1:c.39-8489C>G
ENST00000249806.9:c.906C>G	ENSP00000249806.5:p.Phe302Leu
ENST00000538696.5:c.1002C>G	ENSP00000445770.1:p.Phe334Leu
ENST00000562767.1:c.84-10542C>G	ENSP00000456336.1:n.84-10542C>G
ENST00000565471.5:c.447C>G	ENSP00000457384.1:p.Phe149Leu
ENST00000566347.5:c.717C>G	ENSP00000457783.1:p.Phe239Leu
ENST00000567060.5:c.*304C>G	ENSP00000454818.1:n.*304C>G
NM_017882.2:c.906C>G	NP_060352.1:p.Phe302Leu
NM_017882.3:c.906C>G MANE Select	NP_060352.1:p.Phe302Leu