Canonical Allele Identifier: CA272383633
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs372419034

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209836G>C , CM000677.2:g.68209836G>C GRCh38
NC_000015.9:g.68502174G>C , CM000677.1:g.68502174G>C GRCh37
NC_000015.8:g.66289228G>C NCBI36
NG_008764.2:g.52376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.543-77C>G MANE Select ENSP00000249806.5:n.543-77C>G
ENST00000562767.2:c.84-12208C>G ENSP00000456336.1:n.84-12208C>G
ENST00000563917.2:n.385-77C>G
ENST00000565471.6:c.84-77C>G ENSP00000457384.1:n.84-77C>G
ENST00000635747.1:c.*446-77C>G ENSP00000490627.1:n.*446-77C>G
ENST00000636212.1:c.*213-77C>G ENSP00000489851.1:n.*213-77C>G
ENST00000636314.1:c.239-77C>G ENSP00000490295.1:n.239-77C>G
ENST00000636674.1:n.1645-77C>G
ENST00000636964.1:n.2071-77C>G
ENST00000637054.1:c.198+8700C>G ENSP00000490807.1:n.198+8700C>G
ENST00000637223.1:c.*257-77C>G ENSP00000490010.1:n.*257-77C>G
ENST00000637329.1:c.512-77C>G
ENST00000637450.1:c.*197-77C>G ENSP00000490204.1:n.*197-77C>G
ENST00000637494.1:c.255-77C>G ENSP00000490057.1:n.255-77C>G
ENST00000637667.1:c.444-77C>G ENSP00000489843.1:n.444-77C>G
ENST00000637823.1:c.368-77C>G
ENST00000637888.1:c.198+8700C>G ENSP00000490546.1:n.198+8700C>G
ENST00000638076.1:c.*146-77C>G ENSP00000490373.1:n.*146-77C>G
ENST00000638144.1:n.186-77C>G
ENST00000646164.1:c.38+8700C>G
ENST00000249806.9:c.543-77C>G ENSP00000249806.5:n.543-77C>G
ENST00000538696.5:c.639-77C>G ENSP00000445770.1:n.639-77C>G
ENST00000562767.1:c.84-12208C>G ENSP00000456336.1:n.84-12208C>G
ENST00000563917.1:n.443-77C>G
ENST00000564752.1:c.569-77C>G ENSP00000457822.1:n.569-77C>G
ENST00000565471.5:c.84-77C>G ENSP00000457384.1:n.84-77C>G
ENST00000566347.5:c.354-77C>G ENSP00000457783.1:n.354-77C>G
ENST00000567060.5:c.298-116C>G ENSP00000454818.1:n.298-116C>G
NM_017882.2:c.543-77C>G NP_060352.1:n.543-77C>G
XR_931861.1:n.765-77C>G
NM_017882.3:c.543-77C>G MANE Select NP_060352.1:n.543-77C>G