Canonical Allele Identifier: CA272384785

Gene: CLN6

Linked Data

• dbSNP Id: rs1045516052
• gnomAD v4: 15-68212006-G-A
• MyVariant Identifiers: chr15:g.68504344G>A (hg19) ; chr15:g.68212006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212006G>A , CM000677.2:g.68212006G>A	GRCh38
NC_000015.9:g.68504344G>A , CM000677.1:g.68504344G>A	GRCh37
NC_000015.8:g.66291398G>A	NCBI36
NG_008764.2:g.50206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-143C>T MANE Select	ENSP00000249806.5:n.298-143C>T
ENST00000562767.2:c.84-14378C>T	ENSP00000456336.1:n.84-14378C>T
ENST00000563917.2:n.140-143C>T
ENST00000565471.6:c.84-2247C>T	ENSP00000457384.1:n.84-2247C>T
ENST00000635747.1:c.*201-143C>T	ENSP00000490627.1:n.*201-143C>T
ENST00000636212.1:c.298-265C>T	ENSP00000489851.1:n.298-265C>T
ENST00000636314.1:c.183-688C>T	ENSP00000490295.1:n.183-688C>T
ENST00000636674.1:n.1138C>T
ENST00000636964.1:n.1327C>T
ENST00000637054.1:c.198+6530C>T	ENSP00000490807.1:n.198+6530C>T
ENST00000637223.1:c.*201-688C>T	ENSP00000490010.1:n.*201-688C>T
ENST00000637329.1:c.209-85C>T
ENST00000637450.1:c.183-143C>T	ENSP00000490204.1:n.183-143C>T
ENST00000637494.1:c.199-688C>T	ENSP00000490057.1:n.199-688C>T
ENST00000637667.1:c.199-143C>T	ENSP00000489843.1:n.199-143C>T
ENST00000637823.1:c.224-363C>T
ENST00000637888.1:c.198+6530C>T	ENSP00000490546.1:n.198+6530C>T
ENST00000638076.1:c.298-143C>T	ENSP00000490373.1:n.298-143C>T
ENST00000638144.1:n.130-688C>T
ENST00000646164.1:c.38+6530C>T
ENST00000249806.9:c.298-143C>T	ENSP00000249806.5:n.298-143C>T
ENST00000538696.5:c.394-143C>T	ENSP00000445770.1:n.394-143C>T
ENST00000562767.1:c.84-14378C>T	ENSP00000456336.1:n.84-14378C>T
ENST00000563917.1:n.79-143C>T
ENST00000564752.1:c.298-143C>T	ENSP00000457822.1:n.298-143C>T
ENST00000565471.5:c.84-2247C>T	ENSP00000457384.1:n.84-2247C>T
ENST00000566347.5:c.298-688C>T	ENSP00000457783.1:n.298-688C>T
ENST00000567060.5:c.297+2284C>T	ENSP00000454818.1:n.297+2284C>T
NM_017882.2:c.298-143C>T	NP_060352.1:n.298-143C>T
XR_931861.1:n.401-143C>T
NM_017882.3:c.298-143C>T MANE Select	NP_060352.1:n.298-143C>T