Canonical Allele Identifier: CA252986
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 4085
dbSNP Id: rs786205066

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211258C>A , CM000677.2:g.68211258C>A GRCh38
NC_000015.9:g.68503596C>A , CM000677.1:g.68503596C>A GRCh37
NC_000015.8:g.66290650C>A NCBI36
NG_008764.2:g.50954G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.542+5G>T MANE Select ENSP00000249806.5:n.542+5G>T
ENST00000562767.2:c.84-13630G>T ENSP00000456336.1:n.84-13630G>T
ENST00000563917.2:n.384+5G>T
ENST00000565471.6:c.84-1499G>T ENSP00000457384.1:n.84-1499G>T
ENST00000635747.1:c.*445+5G>T ENSP00000490627.1:n.*445+5G>T
ENST00000636212.1:c.*212+5G>T ENSP00000489851.1:n.*212+5G>T
ENST00000636314.1:c.238+5G>T ENSP00000490295.1:n.238+5G>T
ENST00000636674.1:n.1644+5G>T
ENST00000636964.1:n.2070+5G>T
ENST00000637054.1:c.198+7278G>T ENSP00000490807.1:n.198+7278G>T
ENST00000637223.1:c.*256+5G>T ENSP00000490010.1:n.*256+5G>T
ENST00000637329.1:c.511+5G>T
ENST00000637450.1:c.*196+5G>T ENSP00000490204.1:n.*196+5G>T
ENST00000637494.1:c.254+5G>T ENSP00000490057.1:n.254+5G>T
ENST00000637667.1:c.443+5G>T ENSP00000489843.1:n.443+5G>T
ENST00000637823.1:c.367+5G>T
ENST00000637888.1:c.198+7278G>T ENSP00000490546.1:n.198+7278G>T
ENST00000638076.1:c.*145+5G>T ENSP00000490373.1:n.*145+5G>T
ENST00000638144.1:n.185+5G>T
ENST00000646164.1:c.38+7278G>T
ENST00000249806.9:c.542+5G>T ENSP00000249806.5:n.542+5G>T
ENST00000538696.5:c.638+5G>T ENSP00000445770.1:n.638+5G>T
ENST00000562767.1:c.84-13630G>T ENSP00000456336.1:n.84-13630G>T
ENST00000563917.1:n.442+5G>T
ENST00000564752.1:c.568+5G>T ENSP00000457822.1:n.568+5G>T
ENST00000565471.5:c.84-1499G>T ENSP00000457384.1:n.84-1499G>T
ENST00000566347.5:c.353+5G>T ENSP00000457783.1:n.353+5G>T
ENST00000567060.5:c.298-1538G>T ENSP00000454818.1:n.298-1538G>T
NM_017882.2:c.542+5G>T NP_060352.1:n.542+5G>T
XR_931861.1:n.764+5G>T
NM_017882.3:c.542+5G>T MANE Select NP_060352.1:n.542+5G>T