Canonical Allele Identifier: CA272382379

Gene: CLN6

Linked Data

• dbSNP Id: rs1003224047
• gnomAD v2: 15-68500120-G-A
• gnomAD v3: 15-68207782-G-A
• gnomAD v4: 15-68207782-G-A
• MyVariant Identifiers: chr15:g.68500120G>A (hg19) ; chr15:g.68207782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207782G>A , CM000677.2:g.68207782G>A	GRCh38
NC_000015.9:g.68500120G>A , CM000677.1:g.68500120G>A	GRCh37
NC_000015.8:g.66287174G>A	NCBI36
NG_008764.2:g.54430C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*358C>T MANE Select	ENSP00000249806.5:n.*358C>T
ENST00000562767.2:c.84-10154C>T	ENSP00000456336.1:n.84-10154C>T
ENST00000565471.6:c.*358C>T	ENSP00000457384.1:n.*358C>T
ENST00000636964.1:n.2822C>T
ENST00000637054.1:c.199-10154C>T	ENSP00000490807.1:n.199-10154C>T
ENST00000637888.1:c.199-10154C>T	ENSP00000490546.1:n.199-10154C>T
ENST00000638076.1:c.*897C>T	ENSP00000490373.1:n.*897C>T
ENST00000646164.1:c.39-8101C>T
ENST00000249806.9:c.*358C>T	ENSP00000249806.5:n.*358C>T
ENST00000562767.1:c.84-10154C>T	ENSP00000456336.1:n.84-10154C>T
ENST00000565471.5:c.*358C>T	ENSP00000457384.1:n.*358C>T
NM_017882.2:c.*358C>T	NP_060352.1:n.*358C>T
NM_017882.3:c.*358C>T MANE Select	NP_060352.1:n.*358C>T