Canonical Allele Identifier: CA392972965

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502060T>C (hg19) ; chr15:g.68209722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209722T>C , CM000677.2:g.68209722T>C	GRCh38
NC_000015.9:g.68502060T>C , CM000677.1:g.68502060T>C	GRCh37
NC_000015.8:g.66289114T>C	NCBI36
NG_008764.2:g.52490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.580A>G MANE Select	ENSP00000249806.5:p.Ser194Gly
ENST00000562767.2:c.84-12094A>G	ENSP00000456336.1:n.84-12094A>G
ENST00000563917.2:n.422A>G
ENST00000565471.6:c.121A>G	ENSP00000457384.1:p.Ser41Gly
ENST00000635747.1:c.*483A>G	ENSP00000490627.1:n.*483A>G
ENST00000636212.1:c.*250A>G	ENSP00000489851.1:n.*250A>G
ENST00000636314.1:c.276A>G	ENSP00000490295.1:p.Ser92=
ENST00000636674.1:n.1682A>G
ENST00000636964.1:n.2108A>G
ENST00000637054.1:c.198+8814A>G	ENSP00000490807.1:n.198+8814A>G
ENST00000637223.1:c.*294A>G	ENSP00000490010.1:n.*294A>G
ENST00000637329.1:c.549A>G
ENST00000637450.1:c.*234A>G	ENSP00000490204.1:n.*234A>G
ENST00000637494.1:c.292A>G	ENSP00000490057.1:p.Ser98Gly
ENST00000637667.1:c.481A>G	ENSP00000489843.1:p.Ser161Gly
ENST00000637823.1:c.405A>G
ENST00000637888.1:c.198+8814A>G	ENSP00000490546.1:n.198+8814A>G
ENST00000638076.1:c.*183A>G	ENSP00000490373.1:n.*183A>G
ENST00000638144.1:n.223A>G
ENST00000646164.1:c.38+8814A>G
ENST00000249806.9:c.580A>G	ENSP00000249806.5:p.Ser194Gly
ENST00000538696.5:c.676A>G	ENSP00000445770.1:p.Ser226Gly
ENST00000562767.1:c.84-12094A>G	ENSP00000456336.1:n.84-12094A>G
ENST00000563917.1:n.480A>G
ENST00000564752.1:c.606A>G	ENSP00000457822.1:p.Ser202=
ENST00000565471.5:c.121A>G	ENSP00000457384.1:p.Ser41Gly
ENST00000566347.5:c.391A>G	ENSP00000457783.1:p.Ser131Gly
ENST00000567060.5:c.298-2A>G	ENSP00000454818.1:n.298-2A>G
NM_017882.2:c.580A>G	NP_060352.1:p.Ser194Gly
XR_931861.1:n.802A>G
NM_017882.3:c.580A>G MANE Select	NP_060352.1:p.Ser194Gly