Canonical Allele Identifier: CA290143
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 136797
dbSNP Id: rs146135801

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211822C>T , CM000677.2:g.68211822C>T GRCh38
NC_000015.9:g.68504160C>T , CM000677.1:g.68504160C>T GRCh37
NC_000015.8:g.66291214C>T NCBI36
NG_008764.2:g.50390G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.339G>A MANE Select ENSP00000249806.5:p.Thr113=
ENST00000562767.2:c.84-14194G>A ENSP00000456336.1:p.=
ENST00000563917.2:n.181G>A
ENST00000565471.6:c.84-2063G>A ENSP00000457384.1:p.=
ENST00000635747.1:c.*242G>A ENSP00000490627.1:p.=
ENST00000636212.1:c.298-81G>A ENSP00000489851.1:p.=
ENST00000636314.1:c.183-504G>A ENSP00000490295.1:p.=
ENST00000636674.1:n.1322G>A
ENST00000636964.1:n.1511G>A
ENST00000637054.1:c.198+6714G>A ENSP00000490807.1:p.=
ENST00000637223.1:c.*201-504G>A ENSP00000490010.1:p.=
ENST00000637329.1:n.308G>A
ENST00000637450.1:c.224G>A ENSP00000490204.1:p.Arg75His
ENST00000637494.1:c.199-504G>A ENSP00000490057.1:p.=
ENST00000637667.1:c.240G>A ENSP00000489843.1:p.Thr80=
ENST00000637823.1:n.224-179G>A
ENST00000637888.1:c.198+6714G>A ENSP00000490546.1:p.=
ENST00000638076.1:c.339G>A ENSP00000490373.1:p.Thr113=
ENST00000638144.1:n.130-504G>A
ENST00000646164.1:n.38+6714G>A
ENST00000249806.9:c.339G>A ENSP00000249806.5:p.Thr113=
ENST00000538696.5:c.435G>A ENSP00000445770.1:p.Thr145=
ENST00000562767.1:c.84-14194G>A ENSP00000456336.1:p.=
ENST00000563917.1:n.120G>A
ENST00000564752.1:c.339G>A ENSP00000457822.1:p.Thr113=
ENST00000565471.5:c.84-2063G>A ENSP00000457384.1:p.=
ENST00000566347.5:c.298-504G>A ENSP00000457783.1:p.=
ENST00000567060.5:c.298-2102G>A ENSP00000454818.1:p.=
NM_017882.2:c.339G>A NP_060352.1:p.Thr113=
XR_931861.1:n.442G>A
NM_017882.3:c.339G>A MANE Select NP_060352.1:p.Thr113=