Canonical Allele Identifier: CA272384534
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs1039501606

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211594G>A , CM000677.2:g.68211594G>A GRCh38
NC_000015.9:g.68503932G>A , CM000677.1:g.68503932G>A GRCh37
NC_000015.8:g.66290986G>A NCBI36
NG_008764.2:g.50618C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.486+81C>T MANE Select ENSP00000249806.5:n.486+81C>T
ENST00000562767.2:c.84-13966C>T ENSP00000456336.1:n.84-13966C>T
ENST00000563917.2:n.328+81C>T
ENST00000565471.6:c.84-1835C>T ENSP00000457384.1:n.84-1835C>T
ENST00000635747.1:c.*389+81C>T ENSP00000490627.1:n.*389+81C>T
ENST00000636212.1:c.*118C>T ENSP00000489851.1:n.*118C>T
ENST00000636314.1:c.183-276C>T ENSP00000490295.1:n.183-276C>T
ENST00000636674.1:n.1550C>T
ENST00000636964.1:n.1739C>T
ENST00000637054.1:c.198+6942C>T ENSP00000490807.1:n.198+6942C>T
ENST00000637223.1:c.*201-276C>T ENSP00000490010.1:n.*201-276C>T
ENST00000637329.1:c.455+81C>T
ENST00000637450.1:c.*140+81C>T ENSP00000490204.1:n.*140+81C>T
ENST00000637494.1:c.199-276C>T ENSP00000490057.1:n.199-276C>T
ENST00000637667.1:c.387+81C>T ENSP00000489843.1:n.387+81C>T
ENST00000637823.1:c.273C>T
ENST00000637888.1:c.198+6942C>T ENSP00000490546.1:n.198+6942C>T
ENST00000638076.1:c.*51C>T ENSP00000490373.1:n.*51C>T
ENST00000638144.1:n.130-276C>T
ENST00000646164.1:c.38+6942C>T
ENST00000249806.9:c.486+81C>T ENSP00000249806.5:n.486+81C>T
ENST00000538696.5:c.582+81C>T ENSP00000445770.1:n.582+81C>T
ENST00000562767.1:c.84-13966C>T ENSP00000456336.1:n.84-13966C>T
ENST00000563917.1:n.348C>T
ENST00000564752.1:c.512+55C>T ENSP00000457822.1:n.512+55C>T
ENST00000565471.5:c.84-1835C>T ENSP00000457384.1:n.84-1835C>T
ENST00000566347.5:c.298-276C>T ENSP00000457783.1:n.298-276C>T
ENST00000567060.5:c.298-1874C>T ENSP00000454818.1:n.298-1874C>T
NM_017882.2:c.486+81C>T NP_060352.1:n.486+81C>T
XR_931861.1:n.670C>T
NM_017882.3:c.486+81C>T MANE Select NP_060352.1:n.486+81C>T