Canonical Allele Identifier: CA272387618
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs979566677

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68214284C>A , CM000677.2:g.68214284C>A GRCh38
NC_000015.9:g.68506622C>A , CM000677.1:g.68506622C>A GRCh37
NC_000015.8:g.66293676C>A NCBI36
NG_008764.2:g.47928G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.297+6G>T MANE Select ENSP00000249806.5:n.297+6G>T
ENST00000562767.2:c.83+15218G>T ENSP00000456336.1:n.83+15218G>T
ENST00000563917.2:n.139+6G>T
ENST00000565471.6:c.84-4525G>T ENSP00000457384.1:n.84-4525G>T
ENST00000635747.1:c.*200+6G>T ENSP00000490627.1:n.*200+6G>T
ENST00000635754.1:n.1325G>T
ENST00000636020.1:n.435G>T
ENST00000636212.1:c.297+6G>T ENSP00000489851.1:n.297+6G>T
ENST00000636314.1:c.182+6G>T ENSP00000490295.1:n.182+6G>T
ENST00000637054.1:c.198+4252G>T ENSP00000490807.1:n.198+4252G>T
ENST00000637223.1:c.*200+6G>T ENSP00000490010.1:n.*200+6G>T
ENST00000637329.1:c.208+6G>T
ENST00000637450.1:c.182+6G>T ENSP00000490204.1:n.182+6G>T
ENST00000637494.1:c.199-2966G>T ENSP00000490057.1:n.199-2966G>T
ENST00000637667.1:c.199-2421G>T ENSP00000489843.1:n.199-2421G>T
ENST00000637823.1:c.223+6G>T
ENST00000637888.1:c.198+4252G>T ENSP00000490546.1:n.198+4252G>T
ENST00000638076.1:c.297+6G>T ENSP00000490373.1:n.297+6G>T
ENST00000638144.1:n.129+6G>T
ENST00000646164.1:c.38+4252G>T
ENST00000249806.9:c.297+6G>T ENSP00000249806.5:n.297+6G>T
ENST00000538696.5:c.393+6G>T ENSP00000445770.1:n.393+6G>T
ENST00000562767.1:c.83+15218G>T ENSP00000456336.1:n.83+15218G>T
ENST00000563917.1:n.78+6G>T
ENST00000564752.1:c.297+6G>T ENSP00000457822.1:n.297+6G>T
ENST00000564846.1:n.735G>T
ENST00000565471.5:c.84-4525G>T ENSP00000457384.1:n.84-4525G>T
ENST00000566347.5:c.297+6G>T ENSP00000457783.1:n.297+6G>T
ENST00000567060.5:c.297+6G>T ENSP00000454818.1:n.297+6G>T
NM_017882.2:c.297+6G>T NP_060352.1:n.297+6G>T
XR_931861.1:n.400+6G>T
NM_017882.3:c.297+6G>T MANE Select NP_060352.1:n.297+6G>T