Canonical Allele Identifier: CA392972966

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.580A>C MANE Select	ENSP00000249806.5:p.Ser194Arg
ENST00000562767.2:c.84-12094A>C	ENSP00000456336.1:n.84-12094A>C
ENST00000563917.2:n.422A>C
ENST00000565471.6:c.121A>C	ENSP00000457384.1:p.Ser41Arg
ENST00000635747.1:c.*483A>C	ENSP00000490627.1:n.*483A>C
ENST00000636212.1:c.*250A>C	ENSP00000489851.1:n.*250A>C
ENST00000636314.1:c.276A>C	ENSP00000490295.1:p.Ser92=
ENST00000636674.1:n.1682A>C
ENST00000636964.1:n.2108A>C
ENST00000637054.1:c.198+8814A>C	ENSP00000490807.1:n.198+8814A>C
ENST00000637223.1:c.*294A>C	ENSP00000490010.1:n.*294A>C
ENST00000637329.1:c.549A>C
ENST00000637450.1:c.*234A>C	ENSP00000490204.1:n.*234A>C
ENST00000637494.1:c.292A>C	ENSP00000490057.1:p.Ser98Arg
ENST00000637667.1:c.481A>C	ENSP00000489843.1:p.Ser161Arg
ENST00000637823.1:c.405A>C
ENST00000637888.1:c.198+8814A>C	ENSP00000490546.1:n.198+8814A>C
ENST00000638076.1:c.*183A>C	ENSP00000490373.1:n.*183A>C
ENST00000638144.1:n.223A>C
ENST00000646164.1:c.38+8814A>C
ENST00000249806.9:c.580A>C	ENSP00000249806.5:p.Ser194Arg
ENST00000538696.5:c.676A>C	ENSP00000445770.1:p.Ser226Arg
ENST00000562767.1:c.84-12094A>C	ENSP00000456336.1:n.84-12094A>C
ENST00000563917.1:n.480A>C
ENST00000564752.1:c.606A>C	ENSP00000457822.1:p.Ser202=
ENST00000565471.5:c.121A>C	ENSP00000457384.1:p.Ser41Arg
ENST00000566347.5:c.391A>C	ENSP00000457783.1:p.Ser131Arg
ENST00000567060.5:c.298-2A>C	ENSP00000454818.1:n.298-2A>C
NM_017882.2:c.580A>C	NP_060352.1:p.Ser194Arg
XR_931861.1:n.802A>C
NM_017882.3:c.580A>C MANE Select	NP_060352.1:p.Ser194Arg