Canonical Allele Identifier: CA10636478

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316980
• ClinVar RCV Id: RCV000286892
• dbSNP Id: rs886051441
• gnomAD v2: 15-68500232-C-T
• gnomAD v3: 15-68207894-C-T
• gnomAD v4: 15-68207894-C-T
• MyVariant Identifiers: chr15:g.68500232C>T (hg19) ; chr15:g.68207894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207894C>T , CM000677.2:g.68207894C>T	GRCh38
NC_000015.9:g.68500232C>T , CM000677.1:g.68500232C>T	GRCh37
NC_000015.8:g.66287286C>T	NCBI36
NG_008764.2:g.54318G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*246G>A MANE Select	ENSP00000249806.5:n.*246G>A
ENST00000562767.2:c.84-10266G>A	ENSP00000456336.1:n.84-10266G>A
ENST00000565471.6:c.*246G>A	ENSP00000457384.1:n.*246G>A
ENST00000636964.1:n.2710G>A
ENST00000637054.1:c.199-10266G>A	ENSP00000490807.1:n.199-10266G>A
ENST00000637329.1:c.1151G>A
ENST00000637888.1:c.199-10266G>A	ENSP00000490546.1:n.199-10266G>A
ENST00000638076.1:c.*785G>A	ENSP00000490373.1:n.*785G>A
ENST00000646164.1:c.39-8213G>A
ENST00000249806.9:c.*246G>A	ENSP00000249806.5:n.*246G>A
ENST00000562767.1:c.84-10266G>A	ENSP00000456336.1:n.84-10266G>A
ENST00000565471.5:c.*246G>A	ENSP00000457384.1:n.*246G>A
NM_017882.2:c.*246G>A	NP_060352.1:n.*246G>A
NM_017882.3:c.*246G>A MANE Select	NP_060352.1:n.*246G>A