Canonical Allele Identifier: CA490915562

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2036568
• ClinVar RCV Id: RCV002899242
• MyVariant Identifiers: chr15:g.68510940G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218602G>A , CM000677.2:g.68218602G>A	GRCh38
NC_000015.9:g.68510940G>A , CM000677.1:g.68510940G>A	GRCh37
NC_000015.8:g.66297994G>A	NCBI36
NG_008764.2:g.43610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.132C>T MANE Select	ENSP00000249806.5:p.His44=
ENST00000562767.2:c.83+10900C>T	ENSP00000456336.1:n.83+10900C>T
ENST00000563917.2:n.41-4214C>T
ENST00000565471.6:c.84-8843C>T	ENSP00000457384.1:n.84-8843C>T
ENST00000569336.2:n.41C>T
ENST00000635747.1:c.*35C>T	ENSP00000490627.1:n.*35C>T
ENST00000636020.1:n.264C>T
ENST00000636212.1:c.132C>T	ENSP00000489851.1:p.His44=
ENST00000636314.1:c.84-4214C>T	ENSP00000490295.1:n.84-4214C>T
ENST00000636876.1:c.*152C>T	ENSP00000489950.1:n.*152C>T
ENST00000637054.1:c.132C>T	ENSP00000490807.1:p.His44=
ENST00000637223.1:c.*35C>T	ENSP00000490010.1:n.*35C>T
ENST00000637329.1:c.43C>T
ENST00000637450.1:c.84-4214C>T	ENSP00000490204.1:n.84-4214C>T
ENST00000637494.1:c.132C>T	ENSP00000490057.1:p.His44=
ENST00000637667.1:c.132C>T	ENSP00000489843.1:p.His44=
ENST00000637823.1:c.58C>T
ENST00000637888.1:c.132C>T	ENSP00000490546.1:p.His44=
ENST00000638076.1:c.132C>T	ENSP00000490373.1:p.His44=
ENST00000638144.1:n.31-4214C>T
ENST00000249806.9:c.132C>T	ENSP00000249806.5:p.His44=
ENST00000538696.5:c.228C>T	ENSP00000445770.1:p.His76=
ENST00000562767.1:c.83+10900C>T	ENSP00000456336.1:n.83+10900C>T
ENST00000564752.1:c.132C>T	ENSP00000457822.1:p.His44=
ENST00000564846.1:n.564C>T
ENST00000565471.5:c.84-8843C>T	ENSP00000457384.1:n.84-8843C>T
ENST00000566347.5:c.132C>T	ENSP00000457783.1:p.His44=
ENST00000567060.5:c.132C>T	ENSP00000454818.1:p.His44=
ENST00000569336.1:n.218C>T
NM_017882.2:c.132C>T	NP_060352.1:p.His44=
XR_931861.1:n.235C>T
NM_017882.3:c.132C>T MANE Select	NP_060352.1:p.His44=