Canonical Allele Identifier: CA392973689
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059430
dbSNP Id: rs777921628

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211850G>A , CM000677.2:g.68211850G>A GRCh38
NC_000015.9:g.68504188G>A , CM000677.1:g.68504188G>A GRCh37
NC_000015.8:g.66291242G>A NCBI36
NG_008764.2:g.50362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.311C>T MANE Select ENSP00000249806.5:p.Ser104Phe
ENST00000562767.2:c.84-14222C>T ENSP00000456336.1:n.84-14222C>T
ENST00000563917.2:n.153C>T
ENST00000565471.6:c.84-2091C>T ENSP00000457384.1:n.84-2091C>T
ENST00000635747.1:c.*214C>T ENSP00000490627.1:n.*214C>T
ENST00000636212.1:c.298-109C>T ENSP00000489851.1:n.298-109C>T
ENST00000636314.1:c.183-532C>T ENSP00000490295.1:n.183-532C>T
ENST00000636674.1:n.1294C>T
ENST00000636964.1:n.1483C>T
ENST00000637054.1:c.198+6686C>T ENSP00000490807.1:n.198+6686C>T
ENST00000637223.1:c.*201-532C>T ENSP00000490010.1:n.*201-532C>T
ENST00000637329.1:c.280C>T
ENST00000637450.1:c.196C>T ENSP00000490204.1:p.Pro66Ser
ENST00000637494.1:c.199-532C>T ENSP00000490057.1:n.199-532C>T
ENST00000637667.1:c.212C>T ENSP00000489843.1:p.Ser71Phe
ENST00000637823.1:c.224-207C>T
ENST00000637888.1:c.198+6686C>T ENSP00000490546.1:n.198+6686C>T
ENST00000638076.1:c.311C>T ENSP00000490373.1:p.Ser104Phe
ENST00000638144.1:n.130-532C>T
ENST00000646164.1:c.38+6686C>T
ENST00000249806.9:c.311C>T ENSP00000249806.5:p.Ser104Phe
ENST00000538696.5:c.407C>T ENSP00000445770.1:p.Ser136Phe
ENST00000562767.1:c.84-14222C>T ENSP00000456336.1:n.84-14222C>T
ENST00000563917.1:n.92C>T
ENST00000564752.1:c.311C>T ENSP00000457822.1:p.Ser104Phe
ENST00000565471.5:c.84-2091C>T ENSP00000457384.1:n.84-2091C>T
ENST00000566347.5:c.298-532C>T ENSP00000457783.1:n.298-532C>T
ENST00000567060.5:c.298-2130C>T ENSP00000454818.1:n.298-2130C>T
NM_017882.2:c.311C>T NP_060352.1:p.Ser104Phe
XR_931861.1:n.414C>T
NM_017882.3:c.311C>T MANE Select NP_060352.1:p.Ser104Phe