Canonical Allele Identifier: CA392971563

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208171-A-T
• MyVariant Identifiers: chr15:g.68500509A>T (hg19) ; chr15:g.68208171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208171A>T , CM000677.2:g.68208171A>T	GRCh38
NC_000015.9:g.68500509A>T , CM000677.1:g.68500509A>T	GRCh37
NC_000015.8:g.66287563A>T	NCBI36
NG_008764.2:g.54041T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.905T>A MANE Select	ENSP00000249806.5:p.Phe302Tyr
ENST00000562767.2:c.84-10543T>A	ENSP00000456336.1:n.84-10543T>A
ENST00000565471.6:c.446T>A	ENSP00000457384.1:p.Phe149Tyr
ENST00000635747.1:c.*808T>A	ENSP00000490627.1:n.*808T>A
ENST00000636212.1:c.*575T>A	ENSP00000489851.1:n.*575T>A
ENST00000636964.1:n.2433T>A
ENST00000637054.1:c.198+10365T>A	ENSP00000490807.1:n.198+10365T>A
ENST00000637329.1:c.874T>A
ENST00000637494.1:c.617T>A	ENSP00000490057.1:p.Phe206Tyr
ENST00000637888.1:c.198+10365T>A	ENSP00000490546.1:n.198+10365T>A
ENST00000638076.1:c.*508T>A	ENSP00000490373.1:n.*508T>A
ENST00000638144.1:n.548T>A
ENST00000646164.1:c.39-8490T>A
ENST00000249806.9:c.905T>A	ENSP00000249806.5:p.Phe302Tyr
ENST00000538696.5:c.1001T>A	ENSP00000445770.1:p.Phe334Tyr
ENST00000562767.1:c.84-10543T>A	ENSP00000456336.1:n.84-10543T>A
ENST00000565471.5:c.446T>A	ENSP00000457384.1:p.Phe149Tyr
ENST00000566347.5:c.716T>A	ENSP00000457783.1:p.Phe239Tyr
ENST00000567060.5:c.*303T>A	ENSP00000454818.1:n.*303T>A
NM_017882.2:c.905T>A	NP_060352.1:p.Phe302Tyr
NM_017882.3:c.905T>A MANE Select	NP_060352.1:p.Phe302Tyr