Canonical Allele Identifier: CA7630474

Gene: CLN6

Linked Data

• ClinVar Variation Id: 961382
• ClinVar RCV Id: RCV001235065 ; RCV001561994 ; RCV001375037 ; RCV002246224 ; RCV002563820
• dbSNP Id: rs150363441
• ExAC: 15:68500639 C / T
• gnomAD v2: 15-68500639-C-T
• gnomAD v3: 15-68208301-C-T
• gnomAD v4: 15-68208301-C-T
• MyVariant Identifiers: chr15:g.68500639C>T (hg19) ; chr15:g.68208301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208301C>T , CM000677.2:g.68208301C>T	GRCh38
NC_000015.9:g.68500639C>T , CM000677.1:g.68500639C>T	GRCh37
NC_000015.8:g.66287693C>T	NCBI36
NG_008764.2:g.53911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.775G>A MANE Select	ENSP00000249806.5:p.Gly259Ser
ENST00000562767.2:c.84-10673G>A	ENSP00000456336.1:n.84-10673G>A
ENST00000565471.6:c.316G>A	ENSP00000457384.1:p.Gly106Ser
ENST00000635747.1:c.*678G>A	ENSP00000490627.1:n.*678G>A
ENST00000636212.1:c.*445G>A	ENSP00000489851.1:n.*445G>A
ENST00000636674.1:n.1877G>A
ENST00000636964.1:n.2303G>A
ENST00000637054.1:c.198+10235G>A	ENSP00000490807.1:n.198+10235G>A
ENST00000637329.1:c.744G>A
ENST00000637450.1:c.*429G>A	ENSP00000490204.1:n.*429G>A
ENST00000637494.1:c.487G>A	ENSP00000490057.1:p.Gly163Ser
ENST00000637667.1:c.676G>A	ENSP00000489843.1:p.Gly226Ser
ENST00000637823.1:c.600G>A
ENST00000637888.1:c.198+10235G>A	ENSP00000490546.1:n.198+10235G>A
ENST00000638076.1:c.*378G>A	ENSP00000490373.1:n.*378G>A
ENST00000638144.1:n.418G>A
ENST00000646164.1:c.39-8620G>A
ENST00000249806.9:c.775G>A	ENSP00000249806.5:p.Gly259Ser
ENST00000538696.5:c.871G>A	ENSP00000445770.1:p.Gly291Ser
ENST00000562767.1:c.84-10673G>A	ENSP00000456336.1:n.84-10673G>A
ENST00000565471.5:c.316G>A	ENSP00000457384.1:p.Gly106Ser
ENST00000566347.5:c.586G>A	ENSP00000457783.1:p.Gly196Ser
ENST00000567060.5:c.*173G>A	ENSP00000454818.1:n.*173G>A
NM_017882.2:c.775G>A	NP_060352.1:p.Gly259Ser
NM_017882.3:c.775G>A MANE Select	NP_060352.1:p.Gly259Ser