Canonical Allele Identifier: CA313978

Gene: CLN6

Linked Data

• ClinVar Variation Id: 205175
• ClinVar RCV Id: RCV000187104 ; RCV000544507
• dbSNP Id: rs554594996
• ExAC: 15:68500665 C / T
• gnomAD v2: 15-68500665-C-T
• gnomAD v3: 15-68208327-C-T
• gnomAD v4: 15-68208327-C-T
• MyVariant Identifiers: chr15:g.68500665C>T (hg19) ; chr15:g.68208327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208327C>T , CM000677.2:g.68208327C>T	GRCh38
NC_000015.9:g.68500665C>T , CM000677.1:g.68500665C>T	GRCh37
NC_000015.8:g.66287719C>T	NCBI36
NG_008764.2:g.53885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.749G>A MANE Select	ENSP00000249806.5:p.Arg250His
ENST00000562767.2:c.84-10699G>A	ENSP00000456336.1:n.84-10699G>A
ENST00000565471.6:c.290G>A	ENSP00000457384.1:p.Arg97His
ENST00000635747.1:c.*652G>A	ENSP00000490627.1:n.*652G>A
ENST00000636212.1:c.*419G>A	ENSP00000489851.1:n.*419G>A
ENST00000636674.1:n.1851G>A
ENST00000636964.1:n.2277G>A
ENST00000637054.1:c.198+10209G>A	ENSP00000490807.1:n.198+10209G>A
ENST00000637329.1:c.718G>A
ENST00000637450.1:c.*403G>A	ENSP00000490204.1:n.*403G>A
ENST00000637494.1:c.461G>A	ENSP00000490057.1:p.Arg154His
ENST00000637667.1:c.650G>A	ENSP00000489843.1:p.Arg217His
ENST00000637823.1:c.574G>A
ENST00000637888.1:c.198+10209G>A	ENSP00000490546.1:n.198+10209G>A
ENST00000638076.1:c.*352G>A	ENSP00000490373.1:n.*352G>A
ENST00000638144.1:n.392G>A
ENST00000646164.1:c.39-8646G>A
ENST00000249806.9:c.749G>A	ENSP00000249806.5:p.Arg250His
ENST00000538696.5:c.845G>A	ENSP00000445770.1:p.Arg282His
ENST00000562767.1:c.84-10699G>A	ENSP00000456336.1:n.84-10699G>A
ENST00000564752.1:c.*133G>A	ENSP00000457822.1:n.*133G>A
ENST00000565471.5:c.290G>A	ENSP00000457384.1:p.Arg97His
ENST00000566347.5:c.560G>A	ENSP00000457783.1:p.Arg187His
ENST00000567060.5:c.*147G>A	ENSP00000454818.1:n.*147G>A
NM_017882.2:c.749G>A	NP_060352.1:p.Arg250His
NM_017882.3:c.749G>A MANE Select	NP_060352.1:p.Arg250His