Canonical Allele Identifier: CA392973328
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs2093205758

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211689T>G , CM000677.2:g.68211689T>G GRCh38
NC_000015.9:g.68504027T>G , CM000677.1:g.68504027T>G GRCh37
NC_000015.8:g.66291081T>G NCBI36
NG_008764.2:g.50523A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.472A>C MANE Select ENSP00000249806.5:p.Lys158Gln
ENST00000562767.2:c.84-14061A>C ENSP00000456336.1:n.84-14061A>C
ENST00000563917.2:n.314A>C
ENST00000565471.6:c.84-1930A>C ENSP00000457384.1:n.84-1930A>C
ENST00000635747.1:c.*375A>C ENSP00000490627.1:n.*375A>C
ENST00000636212.1:c.*23A>C ENSP00000489851.1:n.*23A>C
ENST00000636314.1:c.183-371A>C ENSP00000490295.1:n.183-371A>C
ENST00000636674.1:n.1455A>C
ENST00000636964.1:n.1644A>C
ENST00000637054.1:c.198+6847A>C ENSP00000490807.1:n.198+6847A>C
ENST00000637223.1:c.*201-371A>C ENSP00000490010.1:n.*201-371A>C
ENST00000637329.1:c.441A>C
ENST00000637450.1:c.*126A>C ENSP00000490204.1:n.*126A>C
ENST00000637494.1:c.199-371A>C ENSP00000490057.1:n.199-371A>C
ENST00000637667.1:c.373A>C ENSP00000489843.1:p.Lys125Gln
ENST00000637823.1:c.224-46A>C
ENST00000637888.1:c.198+6847A>C ENSP00000490546.1:n.198+6847A>C
ENST00000638076.1:c.472A>C ENSP00000490373.1:p.Lys158Gln
ENST00000638144.1:n.130-371A>C
ENST00000646164.1:c.38+6847A>C
ENST00000249806.9:c.472A>C ENSP00000249806.5:p.Lys158Gln
ENST00000538696.5:c.568A>C ENSP00000445770.1:p.Lys190Gln
ENST00000562767.1:c.84-14061A>C ENSP00000456336.1:n.84-14061A>C
ENST00000563917.1:n.253A>C
ENST00000564752.1:c.472A>C ENSP00000457822.1:p.Lys158Gln
ENST00000565471.5:c.84-1930A>C ENSP00000457384.1:n.84-1930A>C
ENST00000566347.5:c.298-371A>C ENSP00000457783.1:n.298-371A>C
ENST00000567060.5:c.298-1969A>C ENSP00000454818.1:n.298-1969A>C
NM_017882.2:c.472A>C NP_060352.1:p.Lys158Gln
XR_931861.1:n.575A>C
NM_017882.3:c.472A>C MANE Select NP_060352.1:p.Lys158Gln