Canonical Allele Identifier: CA392971960

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500632A>T (hg19) ; chr15:g.68208294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208294A>T , CM000677.2:g.68208294A>T	GRCh38
NC_000015.9:g.68500632A>T , CM000677.1:g.68500632A>T	GRCh37
NC_000015.8:g.66287686A>T	NCBI36
NG_008764.2:g.53918T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.782T>A MANE Select	ENSP00000249806.5:p.Phe261Tyr
ENST00000562767.2:c.84-10666T>A	ENSP00000456336.1:n.84-10666T>A
ENST00000565471.6:c.323T>A	ENSP00000457384.1:p.Phe108Tyr
ENST00000635747.1:c.*685T>A	ENSP00000490627.1:n.*685T>A
ENST00000636212.1:c.*452T>A	ENSP00000489851.1:n.*452T>A
ENST00000636674.1:n.1884T>A
ENST00000636964.1:n.2310T>A
ENST00000637054.1:c.198+10242T>A	ENSP00000490807.1:n.198+10242T>A
ENST00000637329.1:c.751T>A
ENST00000637450.1:c.*436T>A	ENSP00000490204.1:n.*436T>A
ENST00000637494.1:c.494T>A	ENSP00000490057.1:p.Phe165Tyr
ENST00000637667.1:c.683T>A	ENSP00000489843.1:p.Phe228Tyr
ENST00000637823.1:c.607T>A
ENST00000637888.1:c.198+10242T>A	ENSP00000490546.1:n.198+10242T>A
ENST00000638076.1:c.*385T>A	ENSP00000490373.1:n.*385T>A
ENST00000638144.1:n.425T>A
ENST00000646164.1:c.39-8613T>A
ENST00000249806.9:c.782T>A	ENSP00000249806.5:p.Phe261Tyr
ENST00000538696.5:c.878T>A	ENSP00000445770.1:p.Phe293Tyr
ENST00000562767.1:c.84-10666T>A	ENSP00000456336.1:n.84-10666T>A
ENST00000565471.5:c.323T>A	ENSP00000457384.1:p.Phe108Tyr
ENST00000566347.5:c.593T>A	ENSP00000457783.1:p.Phe198Tyr
ENST00000567060.5:c.*180T>A	ENSP00000454818.1:n.*180T>A
NM_017882.2:c.782T>A	NP_060352.1:p.Phe261Tyr
NM_017882.3:c.782T>A MANE Select	NP_060352.1:p.Phe261Tyr