Canonical Allele Identifier: CA10636474

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316976
• ClinVar RCV Id: RCV000366535
• dbSNP Id: rs886051438
• MyVariant Identifiers: chr15:g.68499952T>C (hg19) ; chr15:g.68207614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207614T>C , CM000677.2:g.68207614T>C	GRCh38
NC_000015.9:g.68499952T>C , CM000677.1:g.68499952T>C	GRCh37
NC_000015.8:g.66287006T>C	NCBI36
NG_008764.2:g.54598A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*526A>G MANE Select	ENSP00000249806.5:n.*526A>G
ENST00000562767.2:c.84-9986A>G	ENSP00000456336.1:n.84-9986A>G
ENST00000636964.1:n.2990A>G
ENST00000637054.1:c.199-9986A>G	ENSP00000490807.1:n.199-9986A>G
ENST00000637888.1:c.199-9986A>G	ENSP00000490546.1:n.199-9986A>G
ENST00000638026.1:n.67A>G
ENST00000638076.1:c.*1065A>G	ENSP00000490373.1:n.*1065A>G
ENST00000646164.1:c.39-7933A>G
ENST00000249806.9:c.*526A>G	ENSP00000249806.5:n.*526A>G
ENST00000562767.1:c.84-9986A>G	ENSP00000456336.1:n.84-9986A>G
NM_017882.2:c.*526A>G	NP_060352.1:n.*526A>G
NM_017882.3:c.*526A>G MANE Select	NP_060352.1:n.*526A>G