Canonical Allele Identifier: CA971081277
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs2093214308

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68214267G>C , CM000677.2:g.68214267G>C GRCh38
NC_000015.9:g.68506605G>C , CM000677.1:g.68506605G>C GRCh37
NC_000015.8:g.66293659G>C NCBI36
NG_008764.2:g.47945C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.297+23C>G MANE Select ENSP00000249806.5:n.297+23C>G
ENST00000562767.2:c.83+15235C>G ENSP00000456336.1:n.83+15235C>G
ENST00000563917.2:n.139+23C>G
ENST00000565471.6:c.84-4508C>G ENSP00000457384.1:n.84-4508C>G
ENST00000635747.1:c.*200+23C>G ENSP00000490627.1:n.*200+23C>G
ENST00000635754.1:n.1342C>G
ENST00000636020.1:n.452C>G
ENST00000636212.1:c.297+23C>G ENSP00000489851.1:n.297+23C>G
ENST00000636314.1:c.182+23C>G ENSP00000490295.1:n.182+23C>G
ENST00000637054.1:c.198+4269C>G ENSP00000490807.1:n.198+4269C>G
ENST00000637223.1:c.*200+23C>G ENSP00000490010.1:n.*200+23C>G
ENST00000637329.1:c.208+23C>G
ENST00000637450.1:c.182+23C>G ENSP00000490204.1:n.182+23C>G
ENST00000637494.1:c.199-2949C>G ENSP00000490057.1:n.199-2949C>G
ENST00000637667.1:c.199-2404C>G ENSP00000489843.1:n.199-2404C>G
ENST00000637823.1:c.223+23C>G
ENST00000637888.1:c.198+4269C>G ENSP00000490546.1:n.198+4269C>G
ENST00000638076.1:c.297+23C>G ENSP00000490373.1:n.297+23C>G
ENST00000638144.1:n.129+23C>G
ENST00000646164.1:c.38+4269C>G
ENST00000249806.9:c.297+23C>G ENSP00000249806.5:n.297+23C>G
ENST00000538696.5:c.393+23C>G ENSP00000445770.1:n.393+23C>G
ENST00000562767.1:c.83+15235C>G ENSP00000456336.1:n.83+15235C>G
ENST00000563917.1:n.78+23C>G
ENST00000564752.1:c.297+23C>G ENSP00000457822.1:n.297+23C>G
ENST00000564846.1:n.752C>G
ENST00000565471.5:c.84-4508C>G ENSP00000457384.1:n.84-4508C>G
ENST00000566347.5:c.297+23C>G ENSP00000457783.1:n.297+23C>G
ENST00000567060.5:c.297+23C>G ENSP00000454818.1:n.297+23C>G
NM_017882.2:c.297+23C>G NP_060352.1:n.297+23C>G
XR_931861.1:n.400+23C>G
NM_017882.3:c.297+23C>G MANE Select NP_060352.1:n.297+23C>G