Canonical Allele Identifier: CA2184872506

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211722A= , CM000677.2:g.68211722A=	GRCh38
NC_000015.9:g.68504060A= , CM000677.1:g.68504060A=	GRCh37
NC_000015.8:g.66291114A=	NCBI36
NG_008764.2:g.50490T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.439T= MANE Select	ENSP00000249806.5:p.Ser147=
ENST00000562767.2:c.84-14094T=	ENSP00000456336.1:n.84-14094T=
ENST00000563917.2:n.281T=
ENST00000565471.6:c.84-1963T=	ENSP00000457384.1:n.84-1963T=
ENST00000635747.1:c.*342T=	ENSP00000490627.1:n.*342T=
ENST00000636212.1:c.317T=	ENSP00000489851.1:p.Val106=
ENST00000636314.1:c.183-404T=	ENSP00000490295.1:n.183-404T=
ENST00000636674.1:n.1422T=
ENST00000636964.1:n.1611T=
ENST00000637054.1:c.198+6814T=	ENSP00000490807.1:n.198+6814T=
ENST00000637223.1:c.*201-404T=	ENSP00000490010.1:n.*201-404T=
ENST00000637329.1:c.408T=
ENST00000637450.1:c.*93T=	ENSP00000490204.1:n.*93T=
ENST00000637494.1:c.199-404T=	ENSP00000490057.1:n.199-404T=
ENST00000637667.1:c.340T=	ENSP00000489843.1:p.Ser114=
ENST00000637823.1:c.224-79T=
ENST00000637888.1:c.198+6814T=	ENSP00000490546.1:n.198+6814T=
ENST00000638076.1:c.439T=	ENSP00000490373.1:p.Ser147=
ENST00000638144.1:n.130-404T=
ENST00000646164.1:c.38+6814T=
ENST00000249806.9:c.439T=	ENSP00000249806.5:p.Ser147=
ENST00000538696.5:c.535T=	ENSP00000445770.1:p.Ser179=
ENST00000562767.1:c.84-14094T=	ENSP00000456336.1:n.84-14094T=
ENST00000563917.1:n.220T=
ENST00000564752.1:c.439T=	ENSP00000457822.1:p.Ser147=
ENST00000565471.5:c.84-1963T=	ENSP00000457384.1:n.84-1963T=
ENST00000566347.5:c.298-404T=	ENSP00000457783.1:n.298-404T=
ENST00000567060.5:c.298-2002T=	ENSP00000454818.1:n.298-2002T=
NM_017882.2:c.439T=	NP_060352.1:p.Ser147=
XR_931861.1:n.542T=
NM_017882.3:c.439T= MANE Select	NP_060352.1:p.Ser147=