Canonical Allele Identifier: CA2184879544

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209673G= , CM000677.2:g.68209673G=	GRCh38
NC_000015.9:g.68502011G= , CM000677.1:g.68502011G=	GRCh37
NC_000015.8:g.66289065G=	NCBI36
NG_008764.2:g.52539C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.629C= MANE Select	ENSP00000249806.5:p.Ala210=
ENST00000562767.2:c.84-12045C=	ENSP00000456336.1:n.84-12045C=
ENST00000563917.2:n.471C=
ENST00000565471.6:c.170C=	ENSP00000457384.1:p.Ala57=
ENST00000635747.1:c.*532C=	ENSP00000490627.1:n.*532C=
ENST00000636212.1:c.*299C=	ENSP00000489851.1:n.*299C=
ENST00000636314.1:c.*13C=	ENSP00000490295.1:n.*13C=
ENST00000636674.1:n.1731C=
ENST00000636964.1:n.2157C=
ENST00000637054.1:c.198+8863C=	ENSP00000490807.1:n.198+8863C=
ENST00000637329.1:c.598C=
ENST00000637450.1:c.*283C=	ENSP00000490204.1:n.*283C=
ENST00000637494.1:c.341C=	ENSP00000490057.1:p.Ala114=
ENST00000637667.1:c.530C=	ENSP00000489843.1:p.Ala177=
ENST00000637823.1:c.454C=
ENST00000637888.1:c.198+8863C=	ENSP00000490546.1:n.198+8863C=
ENST00000638076.1:c.*232C=	ENSP00000490373.1:n.*232C=
ENST00000638144.1:n.272C=
ENST00000646164.1:c.38+8863C=
ENST00000249806.9:c.629C=	ENSP00000249806.5:p.Ala210=
ENST00000538696.5:c.725C=	ENSP00000445770.1:p.Ala242=
ENST00000562767.1:c.84-12045C=	ENSP00000456336.1:n.84-12045C=
ENST00000563917.1:n.529C=
ENST00000564752.1:c.*13C=	ENSP00000457822.1:n.*13C=
ENST00000565471.5:c.170C=	ENSP00000457384.1:p.Ala57=
ENST00000566347.5:c.440C=	ENSP00000457783.1:p.Ala147=
ENST00000567060.5:c.*27C=	ENSP00000454818.1:n.*27C=
NM_017882.2:c.629C=	NP_060352.1:p.Ala210=
XR_931861.1:n.851C=
NM_017882.3:c.629C= MANE Select	NP_060352.1:p.Ala210=