Canonical Allele Identifier: CA272382685

Gene: CLN6

Linked Data

• dbSNP Id: rs564353601
• gnomAD v4: 15-68208168-T-C
• MyVariant Identifiers: chr15:g.68500506T>C (hg19) ; chr15:g.68208168T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.908A>G MANE Select	ENSP00000249806.5:p.Tyr303Cys
ENST00000562767.2:c.84-10540A>G	ENSP00000456336.1:n.84-10540A>G
ENST00000565471.6:c.449A>G	ENSP00000457384.1:p.Tyr150Cys
ENST00000635747.1:c.*811A>G	ENSP00000490627.1:n.*811A>G
ENST00000636212.1:c.*578A>G	ENSP00000489851.1:n.*578A>G
ENST00000636964.1:n.2436A>G
ENST00000637054.1:c.198+10368A>G	ENSP00000490807.1:n.198+10368A>G
ENST00000637329.1:c.877A>G
ENST00000637494.1:c.620A>G	ENSP00000490057.1:p.Tyr207Cys
ENST00000637888.1:c.198+10368A>G	ENSP00000490546.1:n.198+10368A>G
ENST00000638076.1:c.*511A>G	ENSP00000490373.1:n.*511A>G
ENST00000638144.1:n.551A>G
ENST00000646164.1:c.39-8487A>G
ENST00000249806.9:c.908A>G	ENSP00000249806.5:p.Tyr303Cys
ENST00000538696.5:c.1004A>G	ENSP00000445770.1:p.Tyr335Cys
ENST00000562767.1:c.84-10540A>G	ENSP00000456336.1:n.84-10540A>G
ENST00000565471.5:c.449A>G	ENSP00000457384.1:p.Tyr150Cys
ENST00000566347.5:c.719A>G	ENSP00000457783.1:p.Tyr240Cys
ENST00000567060.5:c.*306A>G	ENSP00000454818.1:n.*306A>G
NM_017882.2:c.908A>G	NP_060352.1:p.Tyr303Cys
NM_017882.3:c.908A>G MANE Select	NP_060352.1:p.Tyr303Cys