Canonical Allele Identifier: CA2184877859

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208200A= , CM000677.2:g.68208200A=	GRCh38
NC_000015.9:g.68500538A= , CM000677.1:g.68500538A=	GRCh37
NC_000015.8:g.66287592A=	NCBI36
NG_008764.2:g.54012T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.876T= MANE Select	ENSP00000249806.5:p.Gly292=
ENST00000562767.2:c.84-10572T=	ENSP00000456336.1:n.84-10572T=
ENST00000565471.6:c.417T=	ENSP00000457384.1:p.Gly139=
ENST00000635747.1:c.*779T=	ENSP00000490627.1:n.*779T=
ENST00000636212.1:c.*546T=	ENSP00000489851.1:n.*546T=
ENST00000636674.1:n.1978T=
ENST00000636964.1:n.2404T=
ENST00000637054.1:c.198+10336T=	ENSP00000490807.1:n.198+10336T=
ENST00000637329.1:c.845T=
ENST00000637450.1:c.*530T=	ENSP00000490204.1:n.*530T=
ENST00000637494.1:c.588T=	ENSP00000490057.1:p.Gly196=
ENST00000637823.1:c.701T=
ENST00000637888.1:c.198+10336T=	ENSP00000490546.1:n.198+10336T=
ENST00000638076.1:c.*479T=	ENSP00000490373.1:n.*479T=
ENST00000638144.1:n.519T=
ENST00000646164.1:c.39-8519T=
ENST00000249806.9:c.876T=	ENSP00000249806.5:p.Gly292=
ENST00000538696.5:c.972T=	ENSP00000445770.1:p.Gly324=
ENST00000562767.1:c.84-10572T=	ENSP00000456336.1:n.84-10572T=
ENST00000565471.5:c.417T=	ENSP00000457384.1:p.Gly139=
ENST00000566347.5:c.687T=	ENSP00000457783.1:p.Gly229=
ENST00000567060.5:c.*274T=	ENSP00000454818.1:n.*274T=
NM_017882.2:c.876T=	NP_060352.1:p.Gly292=
NM_017882.3:c.876T= MANE Select	NP_060352.1:p.Gly292=