Canonical Allele Identifier: CA392971946

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500626A>T (hg19) ; chr15:g.68208288A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208288A>T , CM000677.2:g.68208288A>T	GRCh38
NC_000015.9:g.68500626A>T , CM000677.1:g.68500626A>T	GRCh37
NC_000015.8:g.66287680A>T	NCBI36
NG_008764.2:g.53924T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.788T>A MANE Select	ENSP00000249806.5:p.Phe263Tyr
ENST00000562767.2:c.84-10660T>A	ENSP00000456336.1:n.84-10660T>A
ENST00000565471.6:c.329T>A	ENSP00000457384.1:p.Phe110Tyr
ENST00000635747.1:c.*691T>A	ENSP00000490627.1:n.*691T>A
ENST00000636212.1:c.*458T>A	ENSP00000489851.1:n.*458T>A
ENST00000636674.1:n.1890T>A
ENST00000636964.1:n.2316T>A
ENST00000637054.1:c.198+10248T>A	ENSP00000490807.1:n.198+10248T>A
ENST00000637329.1:c.757T>A
ENST00000637450.1:c.*442T>A	ENSP00000490204.1:n.*442T>A
ENST00000637494.1:c.500T>A	ENSP00000490057.1:p.Phe167Tyr
ENST00000637667.1:c.689T>A	ENSP00000489843.1:p.Phe230Tyr
ENST00000637823.1:c.613T>A
ENST00000637888.1:c.198+10248T>A	ENSP00000490546.1:n.198+10248T>A
ENST00000638076.1:c.*391T>A	ENSP00000490373.1:n.*391T>A
ENST00000638144.1:n.431T>A
ENST00000646164.1:c.39-8607T>A
ENST00000249806.9:c.788T>A	ENSP00000249806.5:p.Phe263Tyr
ENST00000538696.5:c.884T>A	ENSP00000445770.1:p.Phe295Tyr
ENST00000562767.1:c.84-10660T>A	ENSP00000456336.1:n.84-10660T>A
ENST00000565471.5:c.329T>A	ENSP00000457384.1:p.Phe110Tyr
ENST00000566347.5:c.599T>A	ENSP00000457783.1:p.Phe200Tyr
ENST00000567060.5:c.*186T>A	ENSP00000454818.1:n.*186T>A
NM_017882.2:c.788T>A	NP_060352.1:p.Phe263Tyr
NM_017882.3:c.788T>A MANE Select	NP_060352.1:p.Phe263Tyr