Canonical Allele Identifier: CA2184877696

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208148G= , CM000677.2:g.68208148G=	GRCh38
NC_000015.9:g.68500486G= , CM000677.1:g.68500486G=	GRCh37
NC_000015.8:g.66287540G=	NCBI36
NG_008764.2:g.54064C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.928C= MANE Select	ENSP00000249806.5:p.Arg310=
ENST00000562767.2:c.84-10520C=	ENSP00000456336.1:n.84-10520C=
ENST00000565471.6:c.469C=	ENSP00000457384.1:p.Arg157=
ENST00000635747.1:c.*831C=	ENSP00000490627.1:n.*831C=
ENST00000636964.1:n.2456C=
ENST00000637054.1:c.198+10388C=	ENSP00000490807.1:n.198+10388C=
ENST00000637329.1:c.897C=
ENST00000637494.1:c.640C=	ENSP00000490057.1:p.Arg214=
ENST00000637888.1:c.198+10388C=	ENSP00000490546.1:n.198+10388C=
ENST00000638076.1:c.*531C=	ENSP00000490373.1:n.*531C=
ENST00000638144.1:n.571C=
ENST00000646164.1:c.39-8467C=
ENST00000249806.9:c.928C=	ENSP00000249806.5:p.Arg310=
ENST00000538696.5:c.1024C=	ENSP00000445770.1:p.Arg342=
ENST00000562767.1:c.84-10520C=	ENSP00000456336.1:n.84-10520C=
ENST00000565471.5:c.469C=	ENSP00000457384.1:p.Arg157=
ENST00000566347.5:c.739C=	ENSP00000457783.1:p.Arg247=
ENST00000567060.5:c.*326C=	ENSP00000454818.1:n.*326C=
NM_017882.2:c.928C=	NP_060352.1:p.Arg310=
NM_017882.3:c.928C= MANE Select	NP_060352.1:p.Arg310=