Canonical Allele Identifier: CA2184878316

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208392G= , CM000677.2:g.68208392G=	GRCh38
NC_000015.9:g.68500730G= , CM000677.1:g.68500730G=	GRCh37
NC_000015.8:g.66287784G=	NCBI36
NG_008764.2:g.53820C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.684C= MANE Select	ENSP00000249806.5:p.Gly228=
ENST00000562767.2:c.84-10764C=	ENSP00000456336.1:n.84-10764C=
ENST00000563917.2:n.526C=
ENST00000565471.6:c.225C=	ENSP00000457384.1:p.Gly75=
ENST00000635747.1:c.*587C=	ENSP00000490627.1:n.*587C=
ENST00000636212.1:c.*354C=	ENSP00000489851.1:n.*354C=
ENST00000636674.1:n.1786C=
ENST00000636964.1:n.2212C=
ENST00000637054.1:c.198+10144C=	ENSP00000490807.1:n.198+10144C=
ENST00000637329.1:c.653C=
ENST00000637450.1:c.*338C=	ENSP00000490204.1:n.*338C=
ENST00000637494.1:c.396C=	ENSP00000490057.1:p.Gly132=
ENST00000637667.1:c.585C=	ENSP00000489843.1:p.Gly195=
ENST00000637823.1:c.509C=
ENST00000637888.1:c.198+10144C=	ENSP00000490546.1:n.198+10144C=
ENST00000638076.1:c.*287C=	ENSP00000490373.1:n.*287C=
ENST00000638144.1:n.327C=
ENST00000646164.1:c.39-8711C=
ENST00000249806.9:c.684C=	ENSP00000249806.5:p.Gly228=
ENST00000538696.5:c.780C=	ENSP00000445770.1:p.Gly260=
ENST00000562767.1:c.84-10764C=	ENSP00000456336.1:n.84-10764C=
ENST00000564752.1:c.*68C=	ENSP00000457822.1:n.*68C=
ENST00000565471.5:c.225C=	ENSP00000457384.1:p.Gly75=
ENST00000566347.5:c.495C=	ENSP00000457783.1:p.Gly165=
ENST00000567060.5:c.*82C=	ENSP00000454818.1:n.*82C=
NM_017882.2:c.684C=	NP_060352.1:p.Gly228=
NM_017882.3:c.684C= MANE Select	NP_060352.1:p.Gly228=