Canonical Allele Identifier: CA2184877774

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208166T= , CM000677.2:g.68208166T=	GRCh38
NC_000015.9:g.68500504T= , CM000677.1:g.68500504T=	GRCh37
NC_000015.8:g.66287558T=	NCBI36
NG_008764.2:g.54046A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.910A= MANE Select	ENSP00000249806.5:p.Thr304=
ENST00000562767.2:c.84-10538A=	ENSP00000456336.1:n.84-10538A=
ENST00000565471.6:c.451A=	ENSP00000457384.1:p.Thr151=
ENST00000635747.1:c.*813A=	ENSP00000490627.1:n.*813A=
ENST00000636212.1:c.*580A=	ENSP00000489851.1:n.*580A=
ENST00000636964.1:n.2438A=
ENST00000637054.1:c.198+10370A=	ENSP00000490807.1:n.198+10370A=
ENST00000637329.1:c.879A=
ENST00000637494.1:c.622A=	ENSP00000490057.1:p.Thr208=
ENST00000637888.1:c.198+10370A=	ENSP00000490546.1:n.198+10370A=
ENST00000638076.1:c.*513A=	ENSP00000490373.1:n.*513A=
ENST00000638144.1:n.553A=
ENST00000646164.1:c.39-8485A=
ENST00000249806.9:c.910A=	ENSP00000249806.5:p.Thr304=
ENST00000538696.5:c.1006A=	ENSP00000445770.1:p.Thr336=
ENST00000562767.1:c.84-10538A=	ENSP00000456336.1:n.84-10538A=
ENST00000565471.5:c.451A=	ENSP00000457384.1:p.Thr151=
ENST00000566347.5:c.721A=	ENSP00000457783.1:p.Thr241=
ENST00000567060.5:c.*308A=	ENSP00000454818.1:n.*308A=
NM_017882.2:c.910A=	NP_060352.1:p.Thr304=
NM_017882.3:c.910A= MANE Select	NP_060352.1:p.Thr304=