Canonical Allele Identifier: CA392971551

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500506T>A (hg19) ; chr15:g.68208168T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208168T>A , CM000677.2:g.68208168T>A	GRCh38
NC_000015.9:g.68500506T>A , CM000677.1:g.68500506T>A	GRCh37
NC_000015.8:g.66287560T>A	NCBI36
NG_008764.2:g.54044A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.908A>T MANE Select	ENSP00000249806.5:p.Tyr303Phe
ENST00000562767.2:c.84-10540A>T	ENSP00000456336.1:n.84-10540A>T
ENST00000565471.6:c.449A>T	ENSP00000457384.1:p.Tyr150Phe
ENST00000635747.1:c.*811A>T	ENSP00000490627.1:n.*811A>T
ENST00000636212.1:c.*578A>T	ENSP00000489851.1:n.*578A>T
ENST00000636964.1:n.2436A>T
ENST00000637054.1:c.198+10368A>T	ENSP00000490807.1:n.198+10368A>T
ENST00000637329.1:c.877A>T
ENST00000637494.1:c.620A>T	ENSP00000490057.1:p.Tyr207Phe
ENST00000637888.1:c.198+10368A>T	ENSP00000490546.1:n.198+10368A>T
ENST00000638076.1:c.*511A>T	ENSP00000490373.1:n.*511A>T
ENST00000638144.1:n.551A>T
ENST00000646164.1:c.39-8487A>T
ENST00000249806.9:c.908A>T	ENSP00000249806.5:p.Tyr303Phe
ENST00000538696.5:c.1004A>T	ENSP00000445770.1:p.Tyr335Phe
ENST00000562767.1:c.84-10540A>T	ENSP00000456336.1:n.84-10540A>T
ENST00000565471.5:c.449A>T	ENSP00000457384.1:p.Tyr150Phe
ENST00000566347.5:c.719A>T	ENSP00000457783.1:p.Tyr240Phe
ENST00000567060.5:c.*306A>T	ENSP00000454818.1:n.*306A>T
NM_017882.2:c.908A>T	NP_060352.1:p.Tyr303Phe
NM_017882.3:c.908A>T MANE Select	NP_060352.1:p.Tyr303Phe