Canonical Allele Identifier: CA392973417

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504068T>A (hg19) ; chr15:g.68211730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211730T>A , CM000677.2:g.68211730T>A	GRCh38
NC_000015.9:g.68504068T>A , CM000677.1:g.68504068T>A	GRCh37
NC_000015.8:g.66291122T>A	NCBI36
NG_008764.2:g.50482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.431A>T MANE Select	ENSP00000249806.5:p.His144Leu
ENST00000562767.2:c.84-14102A>T	ENSP00000456336.1:n.84-14102A>T
ENST00000563917.2:n.273A>T
ENST00000565471.6:c.84-1971A>T	ENSP00000457384.1:n.84-1971A>T
ENST00000635747.1:c.*334A>T	ENSP00000490627.1:n.*334A>T
ENST00000636212.1:c.309A>T	ENSP00000489851.1:p.Ala103=
ENST00000636314.1:c.183-412A>T	ENSP00000490295.1:n.183-412A>T
ENST00000636674.1:n.1414A>T
ENST00000636964.1:n.1603A>T
ENST00000637054.1:c.198+6806A>T	ENSP00000490807.1:n.198+6806A>T
ENST00000637223.1:c.*201-412A>T	ENSP00000490010.1:n.*201-412A>T
ENST00000637329.1:c.400A>T
ENST00000637450.1:c.*85A>T	ENSP00000490204.1:n.*85A>T
ENST00000637494.1:c.199-412A>T	ENSP00000490057.1:n.199-412A>T
ENST00000637667.1:c.332A>T	ENSP00000489843.1:p.His111Leu
ENST00000637823.1:c.224-87A>T
ENST00000637888.1:c.198+6806A>T	ENSP00000490546.1:n.198+6806A>T
ENST00000638076.1:c.431A>T	ENSP00000490373.1:p.His144Leu
ENST00000638144.1:n.130-412A>T
ENST00000646164.1:c.38+6806A>T
ENST00000249806.9:c.431A>T	ENSP00000249806.5:p.His144Leu
ENST00000538696.5:c.527A>T	ENSP00000445770.1:p.His176Leu
ENST00000562767.1:c.84-14102A>T	ENSP00000456336.1:n.84-14102A>T
ENST00000563917.1:n.212A>T
ENST00000564752.1:c.431A>T	ENSP00000457822.1:p.His144Leu
ENST00000565471.5:c.84-1971A>T	ENSP00000457384.1:n.84-1971A>T
ENST00000566347.5:c.298-412A>T	ENSP00000457783.1:n.298-412A>T
ENST00000567060.5:c.298-2010A>T	ENSP00000454818.1:n.298-2010A>T
NM_017882.2:c.431A>T	NP_060352.1:p.His144Leu
XR_931861.1:n.534A>T
NM_017882.3:c.431A>T MANE Select	NP_060352.1:p.His144Leu