Canonical Allele Identifier: CA392973599

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504151G>T (hg19) ; chr15:g.68211813G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211813G>T , CM000677.2:g.68211813G>T	GRCh38
NC_000015.9:g.68504151G>T , CM000677.1:g.68504151G>T	GRCh37
NC_000015.8:g.66291205G>T	NCBI36
NG_008764.2:g.50399C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.348C>A MANE Select	ENSP00000249806.5:p.Ser116Arg
ENST00000562767.2:c.84-14185C>A	ENSP00000456336.1:n.84-14185C>A
ENST00000563917.2:n.190C>A
ENST00000565471.6:c.84-2054C>A	ENSP00000457384.1:n.84-2054C>A
ENST00000635747.1:c.*251C>A	ENSP00000490627.1:n.*251C>A
ENST00000636212.1:c.298-72C>A	ENSP00000489851.1:n.298-72C>A
ENST00000636314.1:c.183-495C>A	ENSP00000490295.1:n.183-495C>A
ENST00000636674.1:n.1331C>A
ENST00000636964.1:n.1520C>A
ENST00000637054.1:c.198+6723C>A	ENSP00000490807.1:n.198+6723C>A
ENST00000637223.1:c.*201-495C>A	ENSP00000490010.1:n.*201-495C>A
ENST00000637329.1:c.317C>A
ENST00000637450.1:c.*2C>A	ENSP00000490204.1:n.*2C>A
ENST00000637494.1:c.199-495C>A	ENSP00000490057.1:n.199-495C>A
ENST00000637667.1:c.249C>A	ENSP00000489843.1:p.Ser83Arg
ENST00000637823.1:c.224-170C>A
ENST00000637888.1:c.198+6723C>A	ENSP00000490546.1:n.198+6723C>A
ENST00000638076.1:c.348C>A	ENSP00000490373.1:p.Ser116Arg
ENST00000638144.1:n.130-495C>A
ENST00000646164.1:c.38+6723C>A
ENST00000249806.9:c.348C>A	ENSP00000249806.5:p.Ser116Arg
ENST00000538696.5:c.444C>A	ENSP00000445770.1:p.Ser148Arg
ENST00000562767.1:c.84-14185C>A	ENSP00000456336.1:n.84-14185C>A
ENST00000563917.1:n.129C>A
ENST00000564752.1:c.348C>A	ENSP00000457822.1:p.Ser116Arg
ENST00000565471.5:c.84-2054C>A	ENSP00000457384.1:n.84-2054C>A
ENST00000566347.5:c.298-495C>A	ENSP00000457783.1:n.298-495C>A
ENST00000567060.5:c.298-2093C>A	ENSP00000454818.1:n.298-2093C>A
NM_017882.2:c.348C>A	NP_060352.1:p.Ser116Arg
XR_931861.1:n.451C>A
NM_017882.3:c.348C>A MANE Select	NP_060352.1:p.Ser116Arg