Canonical Allele Identifier: CA392973527

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504118G>C (hg19) ; chr15:g.68211780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211780G>C , CM000677.2:g.68211780G>C	GRCh38
NC_000015.9:g.68504118G>C , CM000677.1:g.68504118G>C	GRCh37
NC_000015.8:g.66291172G>C	NCBI36
NG_008764.2:g.50432C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.381C>G MANE Select	ENSP00000249806.5:p.His127Gln
ENST00000562767.2:c.84-14152C>G	ENSP00000456336.1:n.84-14152C>G
ENST00000563917.2:n.223C>G
ENST00000565471.6:c.84-2021C>G	ENSP00000457384.1:n.84-2021C>G
ENST00000635747.1:c.*284C>G	ENSP00000490627.1:n.*284C>G
ENST00000636212.1:c.298-39C>G	ENSP00000489851.1:n.298-39C>G
ENST00000636314.1:c.183-462C>G	ENSP00000490295.1:n.183-462C>G
ENST00000636674.1:n.1364C>G
ENST00000636964.1:n.1553C>G
ENST00000637054.1:c.198+6756C>G	ENSP00000490807.1:n.198+6756C>G
ENST00000637223.1:c.*201-462C>G	ENSP00000490010.1:n.*201-462C>G
ENST00000637329.1:c.350C>G
ENST00000637450.1:c.*35C>G	ENSP00000490204.1:n.*35C>G
ENST00000637494.1:c.199-462C>G	ENSP00000490057.1:n.199-462C>G
ENST00000637667.1:c.282C>G	ENSP00000489843.1:p.His94Gln
ENST00000637823.1:c.224-137C>G
ENST00000637888.1:c.198+6756C>G	ENSP00000490546.1:n.198+6756C>G
ENST00000638076.1:c.381C>G	ENSP00000490373.1:p.His127Gln
ENST00000638144.1:n.130-462C>G
ENST00000646164.1:c.38+6756C>G
ENST00000249806.9:c.381C>G	ENSP00000249806.5:p.His127Gln
ENST00000538696.5:c.477C>G	ENSP00000445770.1:p.His159Gln
ENST00000562767.1:c.84-14152C>G	ENSP00000456336.1:n.84-14152C>G
ENST00000563917.1:n.162C>G
ENST00000564752.1:c.381C>G	ENSP00000457822.1:p.His127Gln
ENST00000565471.5:c.84-2021C>G	ENSP00000457384.1:n.84-2021C>G
ENST00000566347.5:c.298-462C>G	ENSP00000457783.1:n.298-462C>G
ENST00000567060.5:c.298-2060C>G	ENSP00000454818.1:n.298-2060C>G
NM_017882.2:c.381C>G	NP_060352.1:p.His127Gln
XR_931861.1:n.484C>G
NM_017882.3:c.381C>G MANE Select	NP_060352.1:p.His127Gln