Canonical Allele Identifier: CA392973398
Gene: CLN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211721G>C , CM000677.2:g.68211721G>C GRCh38
NC_000015.9:g.68504059G>C , CM000677.1:g.68504059G>C GRCh37
NC_000015.8:g.66291113G>C NCBI36
NG_008764.2:g.50491C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.440C>G MANE Select ENSP00000249806.5:p.Ser147Cys
ENST00000562767.2:c.84-14093C>G ENSP00000456336.1:n.84-14093C>G
ENST00000563917.2:n.282C>G
ENST00000565471.6:c.84-1962C>G ENSP00000457384.1:n.84-1962C>G
ENST00000635747.1:c.*343C>G ENSP00000490627.1:n.*343C>G
ENST00000636212.1:c.318C>G ENSP00000489851.1:p.Val106=
ENST00000636314.1:c.183-403C>G ENSP00000490295.1:n.183-403C>G
ENST00000636674.1:n.1423C>G
ENST00000636964.1:n.1612C>G
ENST00000637054.1:c.198+6815C>G ENSP00000490807.1:n.198+6815C>G
ENST00000637223.1:c.*201-403C>G ENSP00000490010.1:n.*201-403C>G
ENST00000637329.1:c.409C>G
ENST00000637450.1:c.*94C>G ENSP00000490204.1:n.*94C>G
ENST00000637494.1:c.199-403C>G ENSP00000490057.1:n.199-403C>G
ENST00000637667.1:c.341C>G ENSP00000489843.1:p.Ser114Cys
ENST00000637823.1:c.224-78C>G
ENST00000637888.1:c.198+6815C>G ENSP00000490546.1:n.198+6815C>G
ENST00000638076.1:c.440C>G ENSP00000490373.1:p.Ser147Cys
ENST00000638144.1:n.130-403C>G
ENST00000646164.1:c.38+6815C>G
ENST00000249806.9:c.440C>G ENSP00000249806.5:p.Ser147Cys
ENST00000538696.5:c.536C>G ENSP00000445770.1:p.Ser179Cys
ENST00000562767.1:c.84-14093C>G ENSP00000456336.1:n.84-14093C>G
ENST00000563917.1:n.221C>G
ENST00000564752.1:c.440C>G ENSP00000457822.1:p.Ser147Cys
ENST00000565471.5:c.84-1962C>G ENSP00000457384.1:n.84-1962C>G
ENST00000566347.5:c.298-403C>G ENSP00000457783.1:n.298-403C>G
ENST00000567060.5:c.298-2001C>G ENSP00000454818.1:n.298-2001C>G
NM_017882.2:c.440C>G NP_060352.1:p.Ser147Cys
XR_931861.1:n.543C>G
NM_017882.3:c.440C>G MANE Select NP_060352.1:p.Ser147Cys