Canonical Allele Identifier: CA392973187

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211299A>T , CM000677.2:g.68211299A>T	GRCh38
NC_000015.9:g.68503637A>T , CM000677.1:g.68503637A>T	GRCh37
NC_000015.8:g.66290691A>T	NCBI36
NG_008764.2:g.50913T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.506T>A MANE Select	NP_060352.1:p.Leu169His
ENST00000249806.11:c.506T>A MANE Select	ENSP00000249806.5:p.Leu169His
NM_017882.2:c.506T>A	NP_060352.1:p.Leu169His
ENST00000249806.9:c.506T>A	ENSP00000249806.5:p.Leu169His
ENST00000538696.5:c.602T>A	ENSP00000445770.1:p.Leu201His
ENST00000562767.1:c.84-13671T>A	ENSP00000456336.1:n.84-13671T>A
ENST00000562767.2:c.84-13671T>A	ENSP00000456336.1:n.84-13671T>A
ENST00000563917.1:n.406T>A
ENST00000563917.2:n.348T>A
ENST00000564752.1:c.532T>A	ENSP00000457822.1:p.Ser178Thr
ENST00000565471.5:c.84-1540T>A	ENSP00000457384.1:n.84-1540T>A
ENST00000565471.6:c.84-1540T>A	ENSP00000457384.1:n.84-1540T>A
ENST00000566347.5:c.317T>A	ENSP00000457783.1:p.Leu106His
ENST00000567060.5:c.298-1579T>A	ENSP00000454818.1:n.298-1579T>A
ENST00000635747.1:c.*409T>A	ENSP00000490627.1:n.*409T>A
ENST00000636212.1:c.*176T>A	ENSP00000489851.1:n.*176T>A
ENST00000636314.1:c.202T>A	ENSP00000490295.1:p.Ser68Thr
ENST00000636674.1:n.1608T>A
ENST00000636964.1:n.2034T>A
ENST00000637054.1:c.198+7237T>A	ENSP00000490807.1:n.198+7237T>A
ENST00000637223.1:c.*220T>A	ENSP00000490010.1:n.*220T>A
ENST00000637329.1:c.475T>A
ENST00000637450.1:c.*160T>A	ENSP00000490204.1:n.*160T>A
ENST00000637494.1:c.218T>A	ENSP00000490057.1:p.Leu73His
ENST00000637667.1:c.407T>A	ENSP00000489843.1:p.Leu136His
ENST00000637823.1:c.331T>A
ENST00000637888.1:c.198+7237T>A	ENSP00000490546.1:n.198+7237T>A
ENST00000638076.1:c.*109T>A	ENSP00000490373.1:n.*109T>A
ENST00000638144.1:n.149T>A
ENST00000646164.1:c.38+7237T>A
XR_931861.1:n.728T>A