Canonical Allele Identifier: CA392971973

Gene: CLN6

Linked Data

• ClinVar Variation Id: 555918
• ClinVar RCV Id: RCV000671838
• dbSNP Id: rs150363441
• MyVariant Identifiers: chr15:g.68500639C>A (hg19) ; chr15:g.68208301C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.775G>T MANE Select	ENSP00000249806.5:p.Gly259Cys
ENST00000562767.2:c.84-10673G>T	ENSP00000456336.1:n.84-10673G>T
ENST00000565471.6:c.316G>T	ENSP00000457384.1:p.Gly106Cys
ENST00000635747.1:c.*678G>T	ENSP00000490627.1:n.*678G>T
ENST00000636212.1:c.*445G>T	ENSP00000489851.1:n.*445G>T
ENST00000636674.1:n.1877G>T
ENST00000636964.1:n.2303G>T
ENST00000637054.1:c.198+10235G>T	ENSP00000490807.1:n.198+10235G>T
ENST00000637329.1:c.744G>T
ENST00000637450.1:c.*429G>T	ENSP00000490204.1:n.*429G>T
ENST00000637494.1:c.487G>T	ENSP00000490057.1:p.Gly163Cys
ENST00000637667.1:c.676G>T	ENSP00000489843.1:p.Gly226Cys
ENST00000637823.1:c.600G>T
ENST00000637888.1:c.198+10235G>T	ENSP00000490546.1:n.198+10235G>T
ENST00000638076.1:c.*378G>T	ENSP00000490373.1:n.*378G>T
ENST00000638144.1:n.418G>T
ENST00000646164.1:c.39-8620G>T
ENST00000249806.9:c.775G>T	ENSP00000249806.5:p.Gly259Cys
ENST00000538696.5:c.871G>T	ENSP00000445770.1:p.Gly291Cys
ENST00000562767.1:c.84-10673G>T	ENSP00000456336.1:n.84-10673G>T
ENST00000565471.5:c.316G>T	ENSP00000457384.1:p.Gly106Cys
ENST00000566347.5:c.586G>T	ENSP00000457783.1:p.Gly196Cys
ENST00000567060.5:c.*173G>T	ENSP00000454818.1:n.*173G>T
NM_017882.2:c.775G>T	NP_060352.1:p.Gly259Cys
NM_017882.3:c.775G>T MANE Select	NP_060352.1:p.Gly259Cys