Canonical Allele Identifier: CA272382337

Gene: CLN6

Linked Data

• dbSNP Id: rs966631622
• gnomAD v3: 15-68207618-A-G
• gnomAD v4: 15-68207618-A-G
• MyVariant Identifiers: chr15:g.68499956A>G (hg19) ; chr15:g.68207618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207618A>G , CM000677.2:g.68207618A>G	GRCh38
NC_000015.9:g.68499956A>G , CM000677.1:g.68499956A>G	GRCh37
NC_000015.8:g.66287010A>G	NCBI36
NG_008764.2:g.54594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*522T>C MANE Select	ENSP00000249806.5:n.*522T>C
ENST00000562767.2:c.84-9990T>C	ENSP00000456336.1:n.84-9990T>C
ENST00000636964.1:n.2986T>C
ENST00000637054.1:c.199-9990T>C	ENSP00000490807.1:n.199-9990T>C
ENST00000637888.1:c.199-9990T>C	ENSP00000490546.1:n.199-9990T>C
ENST00000638026.1:n.63T>C
ENST00000638076.1:c.*1061T>C	ENSP00000490373.1:n.*1061T>C
ENST00000646164.1:c.39-7937T>C
ENST00000249806.9:c.*522T>C	ENSP00000249806.5:n.*522T>C
ENST00000562767.1:c.84-9990T>C	ENSP00000456336.1:n.84-9990T>C
NM_017882.2:c.*522T>C	NP_060352.1:n.*522T>C
NM_017882.3:c.*522T>C MANE Select	NP_060352.1:n.*522T>C