Canonical Allele Identifier: CA2184878628
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68218644G= , CM000677.2:g.68218644G= GRCh38
NC_000015.9:g.68510982G= , CM000677.1:g.68510982G= GRCh37
NC_000015.8:g.66298036G= NCBI36
NG_008764.2:g.43568C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.90C= MANE Select ENSP00000249806.5:p.Gly30=
ENST00000562767.2:c.83+10858C= ENSP00000456336.1:n.83+10858C=
ENST00000563917.2:n.41-4256C=
ENST00000565471.6:c.84-8885C= ENSP00000457384.1:n.84-8885C=
ENST00000635747.1:c.179C= ENSP00000490627.1:p.Ala60=
ENST00000636020.1:n.222C=
ENST00000636212.1:c.90C= ENSP00000489851.1:p.Gly30=
ENST00000636314.1:c.84-4256C= ENSP00000490295.1:n.84-4256C=
ENST00000636876.1:c.*110C= ENSP00000489950.1:n.*110C=
ENST00000637054.1:c.90C= ENSP00000490807.1:p.Gly30=
ENST00000637223.1:c.179C= ENSP00000490010.1:p.Ala60=
ENST00000637329.1:c.1C=
ENST00000637450.1:c.84-4256C= ENSP00000490204.1:n.84-4256C=
ENST00000637494.1:c.90C= ENSP00000490057.1:p.Gly30=
ENST00000637667.1:c.90C= ENSP00000489843.1:p.Gly30=
ENST00000637823.1:c.16C=
ENST00000637888.1:c.90C= ENSP00000490546.1:p.Gly30=
ENST00000638076.1:c.90C= ENSP00000490373.1:p.Gly30=
ENST00000638144.1:n.31-4256C=
ENST00000249806.9:c.90C= ENSP00000249806.5:p.Gly30=
ENST00000538696.5:c.186C= ENSP00000445770.1:p.Gly62=
ENST00000562767.1:c.83+10858C= ENSP00000456336.1:n.83+10858C=
ENST00000564752.1:c.90C= ENSP00000457822.1:p.Gly30=
ENST00000564846.1:n.522C=
ENST00000565471.5:c.84-8885C= ENSP00000457384.1:n.84-8885C=
ENST00000566347.5:c.90C= ENSP00000457783.1:p.Gly30=
ENST00000567060.5:c.90C= ENSP00000454818.1:p.Gly30=
ENST00000569336.1:n.176C=
NM_017882.2:c.90C= NP_060352.1:p.Gly30=
XR_931861.1:n.193C=
NM_017882.3:c.90C= MANE Select NP_060352.1:p.Gly30=