Canonical Allele Identifier: CA10647346

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316979
• ClinVar RCV Id: RCV000379154
• dbSNP Id: rs886051440
• MyVariant Identifiers: chr15:g.68500214A>G (hg19) ; chr15:g.68207876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207876A>G , CM000677.2:g.68207876A>G	GRCh38
NC_000015.9:g.68500214A>G , CM000677.1:g.68500214A>G	GRCh37
NC_000015.8:g.66287268A>G	NCBI36
NG_008764.2:g.54336T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*264T>C MANE Select	ENSP00000249806.5:n.*264T>C
ENST00000562767.2:c.84-10248T>C	ENSP00000456336.1:n.84-10248T>C
ENST00000565471.6:c.*264T>C	ENSP00000457384.1:n.*264T>C
ENST00000636964.1:n.2728T>C
ENST00000637054.1:c.199-10248T>C	ENSP00000490807.1:n.199-10248T>C
ENST00000637329.1:c.1169T>C
ENST00000637888.1:c.199-10248T>C	ENSP00000490546.1:n.199-10248T>C
ENST00000638076.1:c.*803T>C	ENSP00000490373.1:n.*803T>C
ENST00000646164.1:c.39-8195T>C
ENST00000249806.9:c.*264T>C	ENSP00000249806.5:n.*264T>C
ENST00000562767.1:c.84-10248T>C	ENSP00000456336.1:n.84-10248T>C
ENST00000565471.5:c.*264T>C	ENSP00000457384.1:n.*264T>C
NM_017882.2:c.*264T>C	NP_060352.1:n.*264T>C
NM_017882.3:c.*264T>C MANE Select	NP_060352.1:n.*264T>C