Canonical Allele Identifier: CA2184872592
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211757T= , CM000677.2:g.68211757T= GRCh38
NC_000015.9:g.68504095T= , CM000677.1:g.68504095T= GRCh37
NC_000015.8:g.66291149T= NCBI36
NG_008764.2:g.50455A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.404A= MANE Select ENSP00000249806.5:p.His135=
ENST00000562767.2:c.84-14129A= ENSP00000456336.1:n.84-14129A=
ENST00000563917.2:n.246A=
ENST00000565471.6:c.84-1998A= ENSP00000457384.1:n.84-1998A=
ENST00000635747.1:c.*307A= ENSP00000490627.1:n.*307A=
ENST00000636212.1:c.298-16A= ENSP00000489851.1:n.298-16A=
ENST00000636314.1:c.183-439A= ENSP00000490295.1:n.183-439A=
ENST00000636674.1:n.1387A=
ENST00000636964.1:n.1576A=
ENST00000637054.1:c.198+6779A= ENSP00000490807.1:n.198+6779A=
ENST00000637223.1:c.*201-439A= ENSP00000490010.1:n.*201-439A=
ENST00000637329.1:c.373A=
ENST00000637450.1:c.*58A= ENSP00000490204.1:n.*58A=
ENST00000637494.1:c.199-439A= ENSP00000490057.1:n.199-439A=
ENST00000637667.1:c.305A= ENSP00000489843.1:p.His102=
ENST00000637823.1:c.224-114A=
ENST00000637888.1:c.198+6779A= ENSP00000490546.1:n.198+6779A=
ENST00000638076.1:c.404A= ENSP00000490373.1:p.His135=
ENST00000638144.1:n.130-439A=
ENST00000646164.1:c.38+6779A=
ENST00000249806.9:c.404A= ENSP00000249806.5:p.His135=
ENST00000538696.5:c.500A= ENSP00000445770.1:p.His167=
ENST00000562767.1:c.84-14129A= ENSP00000456336.1:n.84-14129A=
ENST00000563917.1:n.185A=
ENST00000564752.1:c.404A= ENSP00000457822.1:p.His135=
ENST00000565471.5:c.84-1998A= ENSP00000457384.1:n.84-1998A=
ENST00000566347.5:c.298-439A= ENSP00000457783.1:n.298-439A=
ENST00000567060.5:c.298-2037A= ENSP00000454818.1:n.298-2037A=
NM_017882.2:c.404A= NP_060352.1:p.His135=
XR_931861.1:n.507A=
NM_017882.3:c.404A= MANE Select NP_060352.1:p.His135=