Canonical Allele Identifier: CA313970
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 205170
ClinVar RCV Id: RCV000187099
dbSNP Id: rs796052355

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211673A>G , CM000677.2:g.68211673A>G GRCh38
NC_000015.9:g.68504011A>G , CM000677.1:g.68504011A>G GRCh37
NC_000015.8:g.66291065A>G NCBI36
NG_008764.2:g.50539T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.486+2T>C MANE Select ENSP00000249806.5:n.486+2T>C
ENST00000562767.2:c.84-14045T>C ENSP00000456336.1:n.84-14045T>C
ENST00000563917.2:n.328+2T>C
ENST00000565471.6:c.84-1914T>C ENSP00000457384.1:n.84-1914T>C
ENST00000635747.1:c.*389+2T>C ENSP00000490627.1:n.*389+2T>C
ENST00000636212.1:c.*39T>C ENSP00000489851.1:n.*39T>C
ENST00000636314.1:c.183-355T>C ENSP00000490295.1:n.183-355T>C
ENST00000636674.1:n.1471T>C
ENST00000636964.1:n.1660T>C
ENST00000637054.1:c.198+6863T>C ENSP00000490807.1:n.198+6863T>C
ENST00000637223.1:c.*201-355T>C ENSP00000490010.1:n.*201-355T>C
ENST00000637329.1:c.455+2T>C
ENST00000637450.1:c.*140+2T>C ENSP00000490204.1:n.*140+2T>C
ENST00000637494.1:c.199-355T>C ENSP00000490057.1:n.199-355T>C
ENST00000637667.1:c.387+2T>C ENSP00000489843.1:n.387+2T>C
ENST00000637823.1:c.224-30T>C
ENST00000637888.1:c.198+6863T>C ENSP00000490546.1:n.198+6863T>C
ENST00000638076.1:c.488T>C ENSP00000490373.1:p.Val163Ala
ENST00000638144.1:n.130-355T>C
ENST00000646164.1:c.38+6863T>C
ENST00000249806.9:c.486+2T>C ENSP00000249806.5:n.486+2T>C
ENST00000538696.5:c.582+2T>C ENSP00000445770.1:n.582+2T>C
ENST00000562767.1:c.84-14045T>C ENSP00000456336.1:n.84-14045T>C
ENST00000563917.1:n.269T>C
ENST00000564752.1:c.488T>C ENSP00000457822.1:p.Val163Ala
ENST00000565471.5:c.84-1914T>C ENSP00000457384.1:n.84-1914T>C
ENST00000566347.5:c.298-355T>C ENSP00000457783.1:n.298-355T>C
ENST00000567060.5:c.298-1953T>C ENSP00000454818.1:n.298-1953T>C
NM_017882.2:c.486+2T>C NP_060352.1:n.486+2T>C
XR_931861.1:n.591T>C
NM_017882.3:c.486+2T>C MANE Select NP_060352.1:n.486+2T>C