Canonical Allele Identifier: CA10636483
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 317000
ClinVar RCV Id: RCV000387273
dbSNP Id: rs865972073

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68229692C>G , CM000677.2:g.68229692C>G GRCh38
NC_000015.9:g.68522030C>G , CM000677.1:g.68522030C>G GRCh37
NC_000015.8:g.66309084C>G NCBI36
NG_008764.2:g.32520G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.-108G>C MANE Select ENSP00000249806.5:n.-108G>C
ENST00000562767.2:c.-108G>C ENSP00000456336.1:n.-108G>C
ENST00000563917.2:n.41-15304G>C
ENST00000635747.1:c.173-11042G>C ENSP00000490627.1:n.173-11042G>C
ENST00000636020.1:n.25G>C
ENST00000636212.1:c.-108G>C ENSP00000489851.1:n.-108G>C
ENST00000636314.1:c.-108G>C ENSP00000490295.1:n.-108G>C
ENST00000636876.1:c.*104-11042G>C ENSP00000489950.1:n.*104-11042G>C
ENST00000637223.1:c.173-11042G>C ENSP00000490010.1:n.173-11042G>C
ENST00000637667.1:c.-108G>C ENSP00000489843.1:n.-108G>C
ENST00000637888.1:c.-108G>C ENSP00000490546.1:n.-108G>C
ENST00000638076.1:c.-108G>C ENSP00000490373.1:n.-108G>C
ENST00000638144.1:n.31-15304G>C
ENST00000249806.9:c.-108G>C ENSP00000249806.5:n.-108G>C
ENST00000538696.5:c.180-11042G>C ENSP00000445770.1:n.180-11042G>C
ENST00000562767.1:c.-108G>C ENSP00000456336.1:n.-108G>C
ENST00000564752.1:c.-108G>C ENSP00000457822.1:n.-108G>C
ENST00000564846.1:n.516-11042G>C
ENST00000566347.5:c.-108G>C ENSP00000457783.1:n.-108G>C
NM_017882.2:c.-108G>C NP_060352.1:n.-108G>C
NM_017882.3:c.-108G>C MANE Select NP_060352.1:n.-108G>C