Canonical Allele Identifier: CA313980

Gene: CLN6

Linked Data

• ClinVar Variation Id: 205176
• ClinVar RCV Id: RCV000187105 ; RCV000671648 ; RCV001083020 ; RCV002390489
• dbSNP Id: rs374681194
• ExAC: 15:68500659 C / T
• gnomAD v2: 15-68500659-C-T
• gnomAD v3: 15-68208321-C-T
• gnomAD v4: 15-68208321-C-T
• COSMIC: COSM2257817
• MyVariant Identifiers: chr15:g.68500659C>T (hg19) ; chr15:g.68208321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208321C>T , CM000677.2:g.68208321C>T	GRCh38
NC_000015.9:g.68500659C>T , CM000677.1:g.68500659C>T	GRCh37
NC_000015.8:g.66287713C>T	NCBI36
NG_008764.2:g.53891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.755G>A MANE Select	ENSP00000249806.5:p.Arg252His
ENST00000562767.2:c.84-10693G>A	ENSP00000456336.1:n.84-10693G>A
ENST00000565471.6:c.296G>A	ENSP00000457384.1:p.Arg99His
ENST00000635747.1:c.*658G>A	ENSP00000490627.1:n.*658G>A
ENST00000636212.1:c.*425G>A	ENSP00000489851.1:n.*425G>A
ENST00000636674.1:n.1857G>A
ENST00000636964.1:n.2283G>A
ENST00000637054.1:c.198+10215G>A	ENSP00000490807.1:n.198+10215G>A
ENST00000637329.1:c.724G>A
ENST00000637450.1:c.*409G>A	ENSP00000490204.1:n.*409G>A
ENST00000637494.1:c.467G>A	ENSP00000490057.1:p.Arg156His
ENST00000637667.1:c.656G>A	ENSP00000489843.1:p.Arg219His
ENST00000637823.1:c.580G>A
ENST00000637888.1:c.198+10215G>A	ENSP00000490546.1:n.198+10215G>A
ENST00000638076.1:c.*358G>A	ENSP00000490373.1:n.*358G>A
ENST00000638144.1:n.398G>A
ENST00000646164.1:c.39-8640G>A
ENST00000249806.9:c.755G>A	ENSP00000249806.5:p.Arg252His
ENST00000538696.5:c.851G>A	ENSP00000445770.1:p.Arg284His
ENST00000562767.1:c.84-10693G>A	ENSP00000456336.1:n.84-10693G>A
ENST00000565471.5:c.296G>A	ENSP00000457384.1:p.Arg99His
ENST00000566347.5:c.566G>A	ENSP00000457783.1:p.Arg189His
ENST00000567060.5:c.*153G>A	ENSP00000454818.1:n.*153G>A
NM_017882.2:c.755G>A	NP_060352.1:p.Arg252His
NM_017882.3:c.755G>A MANE Select	NP_060352.1:p.Arg252His