Canonical Allele Identifier: CA392973420

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504069G>A (hg19) ; chr15:g.68211731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211731G>A , CM000677.2:g.68211731G>A	GRCh38
NC_000015.9:g.68504069G>A , CM000677.1:g.68504069G>A	GRCh37
NC_000015.8:g.66291123G>A	NCBI36
NG_008764.2:g.50481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.430C>T MANE Select	ENSP00000249806.5:p.His144Tyr
ENST00000562767.2:c.84-14103C>T	ENSP00000456336.1:n.84-14103C>T
ENST00000563917.2:n.272C>T
ENST00000565471.6:c.84-1972C>T	ENSP00000457384.1:n.84-1972C>T
ENST00000635747.1:c.*333C>T	ENSP00000490627.1:n.*333C>T
ENST00000636212.1:c.308C>T	ENSP00000489851.1:p.Ala103Val
ENST00000636314.1:c.183-413C>T	ENSP00000490295.1:n.183-413C>T
ENST00000636674.1:n.1413C>T
ENST00000636964.1:n.1602C>T
ENST00000637054.1:c.198+6805C>T	ENSP00000490807.1:n.198+6805C>T
ENST00000637223.1:c.*201-413C>T	ENSP00000490010.1:n.*201-413C>T
ENST00000637329.1:c.399C>T
ENST00000637450.1:c.*84C>T	ENSP00000490204.1:n.*84C>T
ENST00000637494.1:c.199-413C>T	ENSP00000490057.1:n.199-413C>T
ENST00000637667.1:c.331C>T	ENSP00000489843.1:p.His111Tyr
ENST00000637823.1:c.224-88C>T
ENST00000637888.1:c.198+6805C>T	ENSP00000490546.1:n.198+6805C>T
ENST00000638076.1:c.430C>T	ENSP00000490373.1:p.His144Tyr
ENST00000638144.1:n.130-413C>T
ENST00000646164.1:c.38+6805C>T
ENST00000249806.9:c.430C>T	ENSP00000249806.5:p.His144Tyr
ENST00000538696.5:c.526C>T	ENSP00000445770.1:p.His176Tyr
ENST00000562767.1:c.84-14103C>T	ENSP00000456336.1:n.84-14103C>T
ENST00000563917.1:n.211C>T
ENST00000564752.1:c.430C>T	ENSP00000457822.1:p.His144Tyr
ENST00000565471.5:c.84-1972C>T	ENSP00000457384.1:n.84-1972C>T
ENST00000566347.5:c.298-413C>T	ENSP00000457783.1:n.298-413C>T
ENST00000567060.5:c.298-2011C>T	ENSP00000454818.1:n.298-2011C>T
NM_017882.2:c.430C>T	NP_060352.1:p.His144Tyr
XR_931861.1:n.533C>T
NM_017882.3:c.430C>T MANE Select	NP_060352.1:p.His144Tyr