Canonical Allele Identifier: CA7630497
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 888281
ClinVar RCV Id: RCV001121503
dbSNP Id: rs761161043

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208413G>A , CM000677.2:g.68208413G>A GRCh38
NC_000015.9:g.68500751G>A , CM000677.1:g.68500751G>A GRCh37
NC_000015.8:g.66287805G>A NCBI36
NG_008764.2:g.53799C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.666-3C>T MANE Select ENSP00000249806.5:n.666-3C>T
ENST00000562767.2:c.84-10785C>T ENSP00000456336.1:n.84-10785C>T
ENST00000563917.2:n.508-3C>T
ENST00000565471.6:c.207-3C>T ENSP00000457384.1:n.207-3C>T
ENST00000635747.1:c.*569-3C>T ENSP00000490627.1:n.*569-3C>T
ENST00000636212.1:c.*336-3C>T ENSP00000489851.1:n.*336-3C>T
ENST00000636674.1:n.1768-3C>T
ENST00000636964.1:n.2194-3C>T
ENST00000637054.1:c.198+10123C>T ENSP00000490807.1:n.198+10123C>T
ENST00000637329.1:c.635-3C>T
ENST00000637450.1:c.*320-3C>T ENSP00000490204.1:n.*320-3C>T
ENST00000637494.1:c.378-3C>T ENSP00000490057.1:n.378-3C>T
ENST00000637667.1:c.567-3C>T ENSP00000489843.1:n.567-3C>T
ENST00000637823.1:c.491-3C>T
ENST00000637888.1:c.198+10123C>T ENSP00000490546.1:n.198+10123C>T
ENST00000638076.1:c.*269-3C>T ENSP00000490373.1:n.*269-3C>T
ENST00000638144.1:n.309-3C>T
ENST00000646164.1:c.39-8732C>T
ENST00000249806.9:c.666-3C>T ENSP00000249806.5:n.666-3C>T
ENST00000538696.5:c.762-3C>T ENSP00000445770.1:n.762-3C>T
ENST00000562767.1:c.84-10785C>T ENSP00000456336.1:n.84-10785C>T
ENST00000564752.1:c.*50-3C>T ENSP00000457822.1:n.*50-3C>T
ENST00000565471.5:c.207-3C>T ENSP00000457384.1:n.207-3C>T
ENST00000566347.5:c.477-3C>T ENSP00000457783.1:n.477-3C>T
ENST00000567060.5:c.*64-3C>T ENSP00000454818.1:n.*64-3C>T
NM_017882.2:c.666-3C>T NP_060352.1:n.666-3C>T
XR_931861.1:n.888-3C>T
NM_017882.3:c.666-3C>T MANE Select NP_060352.1:n.666-3C>T