Canonical Allele Identifier: CA7630478
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 381121
dbSNP Id: rs140653271

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208335G>A , CM000677.2:g.68208335G>A GRCh38
NC_000015.9:g.68500673G>A , CM000677.1:g.68500673G>A GRCh37
NC_000015.8:g.66287727G>A NCBI36
NG_008764.2:g.53877C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.741C>T MANE Select ENSP00000249806.5:p.His247=
ENST00000562767.2:c.84-10707C>T ENSP00000456336.1:n.84-10707C>T
ENST00000565471.6:c.282C>T ENSP00000457384.1:p.His94=
ENST00000635747.1:c.*644C>T ENSP00000490627.1:n.*644C>T
ENST00000636212.1:c.*411C>T ENSP00000489851.1:n.*411C>T
ENST00000636674.1:n.1843C>T
ENST00000636964.1:n.2269C>T
ENST00000637054.1:c.198+10201C>T ENSP00000490807.1:n.198+10201C>T
ENST00000637329.1:c.710C>T
ENST00000637450.1:c.*395C>T ENSP00000490204.1:n.*395C>T
ENST00000637494.1:c.453C>T ENSP00000490057.1:p.His151=
ENST00000637667.1:c.642C>T ENSP00000489843.1:p.His214=
ENST00000637823.1:c.566C>T
ENST00000637888.1:c.198+10201C>T ENSP00000490546.1:n.198+10201C>T
ENST00000638076.1:c.*344C>T ENSP00000490373.1:n.*344C>T
ENST00000638144.1:n.384C>T
ENST00000646164.1:c.39-8654C>T
ENST00000249806.9:c.741C>T ENSP00000249806.5:p.His247=
ENST00000538696.5:c.837C>T ENSP00000445770.1:p.His279=
ENST00000562767.1:c.84-10707C>T ENSP00000456336.1:n.84-10707C>T
ENST00000564752.1:c.*125C>T ENSP00000457822.1:n.*125C>T
ENST00000565471.5:c.282C>T ENSP00000457384.1:p.His94=
ENST00000566347.5:c.552C>T ENSP00000457783.1:p.His184=
ENST00000567060.5:c.*139C>T ENSP00000454818.1:n.*139C>T
NM_017882.2:c.741C>T NP_060352.1:p.His247=
NM_017882.3:c.741C>T MANE Select NP_060352.1:p.His247=