Canonical Allele Identifier: CA392971869

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500596A>C (hg19) ; chr15:g.68208258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208258A>C , CM000677.2:g.68208258A>C	GRCh38
NC_000015.9:g.68500596A>C , CM000677.1:g.68500596A>C	GRCh37
NC_000015.8:g.66287650A>C	NCBI36
NG_008764.2:g.53954T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.818T>G MANE Select	ENSP00000249806.5:p.Val273Gly
ENST00000562767.2:c.84-10630T>G	ENSP00000456336.1:n.84-10630T>G
ENST00000565471.6:c.359T>G	ENSP00000457384.1:p.Val120Gly
ENST00000635747.1:c.*721T>G	ENSP00000490627.1:n.*721T>G
ENST00000636212.1:c.*488T>G	ENSP00000489851.1:n.*488T>G
ENST00000636674.1:n.1920T>G
ENST00000636964.1:n.2346T>G
ENST00000637054.1:c.198+10278T>G	ENSP00000490807.1:n.198+10278T>G
ENST00000637329.1:c.787T>G
ENST00000637450.1:c.*472T>G	ENSP00000490204.1:n.*472T>G
ENST00000637494.1:c.530T>G	ENSP00000490057.1:p.Val177Gly
ENST00000637667.1:c.719T>G	ENSP00000489843.1:p.Val240Gly
ENST00000637823.1:c.643T>G
ENST00000637888.1:c.198+10278T>G	ENSP00000490546.1:n.198+10278T>G
ENST00000638076.1:c.*421T>G	ENSP00000490373.1:n.*421T>G
ENST00000638144.1:n.461T>G
ENST00000646164.1:c.39-8577T>G
ENST00000249806.9:c.818T>G	ENSP00000249806.5:p.Val273Gly
ENST00000538696.5:c.914T>G	ENSP00000445770.1:p.Val305Gly
ENST00000562767.1:c.84-10630T>G	ENSP00000456336.1:n.84-10630T>G
ENST00000565471.5:c.359T>G	ENSP00000457384.1:p.Val120Gly
ENST00000566347.5:c.629T>G	ENSP00000457783.1:p.Val210Gly
ENST00000567060.5:c.*216T>G	ENSP00000454818.1:n.*216T>G
NM_017882.2:c.818T>G	NP_060352.1:p.Val273Gly
NM_017882.3:c.818T>G MANE Select	NP_060352.1:p.Val273Gly