Canonical Allele Identifier: CA2184879581

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209703G= , CM000677.2:g.68209703G=	GRCh38
NC_000015.9:g.68502041G= , CM000677.1:g.68502041G=	GRCh37
NC_000015.8:g.66289095G=	NCBI36
NG_008764.2:g.52509C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.599C= MANE Select	ENSP00000249806.5:p.Ser200=
ENST00000562767.2:c.84-12075C=	ENSP00000456336.1:n.84-12075C=
ENST00000563917.2:n.441C=
ENST00000565471.6:c.140C=	ENSP00000457384.1:p.Ser47=
ENST00000635747.1:c.*502C=	ENSP00000490627.1:n.*502C=
ENST00000636212.1:c.*269C=	ENSP00000489851.1:n.*269C=
ENST00000636314.1:c.295C=	ENSP00000490295.1:p.Leu99=
ENST00000636674.1:n.1701C=
ENST00000636964.1:n.2127C=
ENST00000637054.1:c.198+8833C=	ENSP00000490807.1:n.198+8833C=
ENST00000637223.1:c.*313C=	ENSP00000490010.1:n.*313C=
ENST00000637329.1:c.568C=
ENST00000637450.1:c.*253C=	ENSP00000490204.1:n.*253C=
ENST00000637494.1:c.311C=	ENSP00000490057.1:p.Ser104=
ENST00000637667.1:c.500C=	ENSP00000489843.1:p.Ser167=
ENST00000637823.1:c.424C=
ENST00000637888.1:c.198+8833C=	ENSP00000490546.1:n.198+8833C=
ENST00000638076.1:c.*202C=	ENSP00000490373.1:n.*202C=
ENST00000638144.1:n.242C=
ENST00000646164.1:c.38+8833C=
ENST00000249806.9:c.599C=	ENSP00000249806.5:p.Ser200=
ENST00000538696.5:c.695C=	ENSP00000445770.1:p.Ser232=
ENST00000562767.1:c.84-12075C=	ENSP00000456336.1:n.84-12075C=
ENST00000563917.1:n.499C=
ENST00000564752.1:c.625C=	ENSP00000457822.1:p.Leu209=
ENST00000565471.5:c.140C=	ENSP00000457384.1:p.Ser47=
ENST00000566347.5:c.410C=	ENSP00000457783.1:p.Ser137=
ENST00000567060.5:c.315C=	ENSP00000454818.1:p.Leu105=
NM_017882.2:c.599C=	NP_060352.1:p.Ser200=
XR_931861.1:n.821C=
NM_017882.3:c.599C= MANE Select	NP_060352.1:p.Ser200=