Canonical Allele Identifier: CA313941
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 205153
dbSNP Id: rs779456928

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68218618C>T , CM000677.2:g.68218618C>T GRCh38
NC_000015.9:g.68510956C>T , CM000677.1:g.68510956C>T GRCh37
NC_000015.8:g.66298010C>T NCBI36
NG_008764.2:g.43594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.116G>A MANE Select ENSP00000249806.5:p.Arg39His
ENST00000562767.2:c.83+10884G>A ENSP00000456336.1:n.83+10884G>A
ENST00000563917.2:n.41-4230G>A
ENST00000565471.6:c.84-8859G>A ENSP00000457384.1:n.84-8859G>A
ENST00000569336.2:n.25G>A
ENST00000635747.1:c.*19G>A ENSP00000490627.1:n.*19G>A
ENST00000636020.1:n.248G>A
ENST00000636212.1:c.116G>A ENSP00000489851.1:p.Arg39His
ENST00000636314.1:c.84-4230G>A ENSP00000490295.1:n.84-4230G>A
ENST00000636876.1:c.*136G>A ENSP00000489950.1:n.*136G>A
ENST00000637054.1:c.116G>A ENSP00000490807.1:p.Arg39His
ENST00000637223.1:c.*19G>A ENSP00000490010.1:n.*19G>A
ENST00000637329.1:c.27G>A
ENST00000637450.1:c.84-4230G>A ENSP00000490204.1:n.84-4230G>A
ENST00000637494.1:c.116G>A ENSP00000490057.1:p.Arg39His
ENST00000637667.1:c.116G>A ENSP00000489843.1:p.Arg39His
ENST00000637823.1:c.42G>A
ENST00000637888.1:c.116G>A ENSP00000490546.1:p.Arg39His
ENST00000638076.1:c.116G>A ENSP00000490373.1:p.Arg39His
ENST00000638144.1:n.31-4230G>A
ENST00000249806.9:c.116G>A ENSP00000249806.5:p.Arg39His
ENST00000538696.5:c.212G>A ENSP00000445770.1:p.Arg71His
ENST00000562767.1:c.83+10884G>A ENSP00000456336.1:n.83+10884G>A
ENST00000564752.1:c.116G>A ENSP00000457822.1:p.Arg39His
ENST00000564846.1:n.548G>A
ENST00000565471.5:c.84-8859G>A ENSP00000457384.1:n.84-8859G>A
ENST00000566347.5:c.116G>A ENSP00000457783.1:p.Arg39His
ENST00000567060.5:c.116G>A ENSP00000454818.1:p.Arg39His
ENST00000569336.1:n.202G>A
NM_017882.2:c.116G>A NP_060352.1:p.Arg39His
XR_931861.1:n.219G>A
NM_017882.3:c.116G>A MANE Select NP_060352.1:p.Arg39His