Canonical Allele Identifier: CA392972964

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.580A>T MANE Select	ENSP00000249806.5:p.Ser194Cys
ENST00000562767.2:c.84-12094A>T	ENSP00000456336.1:n.84-12094A>T
ENST00000563917.2:n.422A>T
ENST00000565471.6:c.121A>T	ENSP00000457384.1:p.Ser41Cys
ENST00000635747.1:c.*483A>T	ENSP00000490627.1:n.*483A>T
ENST00000636212.1:c.*250A>T	ENSP00000489851.1:n.*250A>T
ENST00000636314.1:c.276A>T	ENSP00000490295.1:p.Ser92=
ENST00000636674.1:n.1682A>T
ENST00000636964.1:n.2108A>T
ENST00000637054.1:c.198+8814A>T	ENSP00000490807.1:n.198+8814A>T
ENST00000637223.1:c.*294A>T	ENSP00000490010.1:n.*294A>T
ENST00000637329.1:c.549A>T
ENST00000637450.1:c.*234A>T	ENSP00000490204.1:n.*234A>T
ENST00000637494.1:c.292A>T	ENSP00000490057.1:p.Ser98Cys
ENST00000637667.1:c.481A>T	ENSP00000489843.1:p.Ser161Cys
ENST00000637823.1:c.405A>T
ENST00000637888.1:c.198+8814A>T	ENSP00000490546.1:n.198+8814A>T
ENST00000638076.1:c.*183A>T	ENSP00000490373.1:n.*183A>T
ENST00000638144.1:n.223A>T
ENST00000646164.1:c.38+8814A>T
ENST00000249806.9:c.580A>T	ENSP00000249806.5:p.Ser194Cys
ENST00000538696.5:c.676A>T	ENSP00000445770.1:p.Ser226Cys
ENST00000562767.1:c.84-12094A>T	ENSP00000456336.1:n.84-12094A>T
ENST00000563917.1:n.480A>T
ENST00000564752.1:c.606A>T	ENSP00000457822.1:p.Ser202=
ENST00000565471.5:c.121A>T	ENSP00000457384.1:p.Ser41Cys
ENST00000566347.5:c.391A>T	ENSP00000457783.1:p.Ser131Cys
ENST00000567060.5:c.298-2A>T	ENSP00000454818.1:n.298-2A>T
NM_017882.2:c.580A>T	NP_060352.1:p.Ser194Cys
XR_931861.1:n.802A>T
NM_017882.3:c.580A>T MANE Select	NP_060352.1:p.Ser194Cys