Canonical Allele Identifier: CA2184879750

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209756G= , CM000677.2:g.68209756G=	GRCh38
NC_000015.9:g.68502094G= , CM000677.1:g.68502094G=	GRCh37
NC_000015.8:g.66289148G=	NCBI36
NG_008764.2:g.52456C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.546C= MANE Select	ENSP00000249806.5:p.Tyr182=
ENST00000562767.2:c.84-12128C=	ENSP00000456336.1:n.84-12128C=
ENST00000563917.2:n.388C=
ENST00000565471.6:c.87C=	ENSP00000457384.1:p.Tyr29=
ENST00000635747.1:c.*449C=	ENSP00000490627.1:n.*449C=
ENST00000636212.1:c.*216C=	ENSP00000489851.1:n.*216C=
ENST00000636314.1:c.242C=	ENSP00000490295.1:p.Thr81=
ENST00000636674.1:n.1648C=
ENST00000636964.1:n.2074C=
ENST00000637054.1:c.198+8780C=	ENSP00000490807.1:n.198+8780C=
ENST00000637223.1:c.*260C=	ENSP00000490010.1:n.*260C=
ENST00000637329.1:c.515C=
ENST00000637450.1:c.*200C=	ENSP00000490204.1:n.*200C=
ENST00000637494.1:c.258C=	ENSP00000490057.1:p.Tyr86=
ENST00000637667.1:c.447C=	ENSP00000489843.1:p.Tyr149=
ENST00000637823.1:c.371C=
ENST00000637888.1:c.198+8780C=	ENSP00000490546.1:n.198+8780C=
ENST00000638076.1:c.*149C=	ENSP00000490373.1:n.*149C=
ENST00000638144.1:n.189C=
ENST00000646164.1:c.38+8780C=
ENST00000249806.9:c.546C=	ENSP00000249806.5:p.Tyr182=
ENST00000538696.5:c.642C=	ENSP00000445770.1:p.Tyr214=
ENST00000562767.1:c.84-12128C=	ENSP00000456336.1:n.84-12128C=
ENST00000563917.1:n.446C=
ENST00000564752.1:c.572C=	ENSP00000457822.1:p.Thr191=
ENST00000565471.5:c.87C=	ENSP00000457384.1:p.Tyr29=
ENST00000566347.5:c.357C=	ENSP00000457783.1:p.Tyr119=
ENST00000567060.5:c.298-36C=	ENSP00000454818.1:n.298-36C=
NM_017882.2:c.546C=	NP_060352.1:p.Tyr182=
XR_931861.1:n.768C=
NM_017882.3:c.546C= MANE Select	NP_060352.1:p.Tyr182=