Canonical Allele Identifier: CA7630629
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 429681
dbSNP Id: rs774238261

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211860T>C , CM000677.2:g.68211860T>C GRCh38
NC_000015.9:g.68504198T>C , CM000677.1:g.68504198T>C GRCh37
NC_000015.8:g.66291252T>C NCBI36
NG_008764.2:g.50352A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.301A>G MANE Select ENSP00000249806.5:p.Ile101Val
ENST00000562767.2:c.84-14232A>G ENSP00000456336.1:n.84-14232A>G
ENST00000563917.2:n.143A>G
ENST00000565471.6:c.84-2101A>G ENSP00000457384.1:n.84-2101A>G
ENST00000635747.1:c.*204A>G ENSP00000490627.1:n.*204A>G
ENST00000636212.1:c.298-119A>G ENSP00000489851.1:n.298-119A>G
ENST00000636314.1:c.183-542A>G ENSP00000490295.1:n.183-542A>G
ENST00000636674.1:n.1284A>G
ENST00000636964.1:n.1473A>G
ENST00000637054.1:c.198+6676A>G ENSP00000490807.1:n.198+6676A>G
ENST00000637223.1:c.*201-542A>G ENSP00000490010.1:n.*201-542A>G
ENST00000637329.1:c.270A>G
ENST00000637450.1:c.186A>G ENSP00000490204.1:p.Ser62=
ENST00000637494.1:c.199-542A>G ENSP00000490057.1:n.199-542A>G
ENST00000637667.1:c.202A>G ENSP00000489843.1:p.Ile68Val
ENST00000637823.1:c.224-217A>G
ENST00000637888.1:c.198+6676A>G ENSP00000490546.1:n.198+6676A>G
ENST00000638076.1:c.301A>G ENSP00000490373.1:p.Ile101Val
ENST00000638144.1:n.130-542A>G
ENST00000646164.1:c.38+6676A>G
ENST00000249806.9:c.301A>G ENSP00000249806.5:p.Ile101Val
ENST00000538696.5:c.397A>G ENSP00000445770.1:p.Ile133Val
ENST00000562767.1:c.84-14232A>G ENSP00000456336.1:n.84-14232A>G
ENST00000563917.1:n.82A>G
ENST00000564752.1:c.301A>G ENSP00000457822.1:p.Ile101Val
ENST00000565471.5:c.84-2101A>G ENSP00000457384.1:n.84-2101A>G
ENST00000566347.5:c.298-542A>G ENSP00000457783.1:n.298-542A>G
ENST00000567060.5:c.298-2140A>G ENSP00000454818.1:n.298-2140A>G
NM_017882.2:c.301A>G NP_060352.1:p.Ile101Val
XR_931861.1:n.404A>G
NM_017882.3:c.301A>G MANE Select NP_060352.1:p.Ile101Val