Canonical Allele Identifier: CA392971989

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500646G>T (hg19) ; chr15:g.68208308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208308G>T , CM000677.2:g.68208308G>T	GRCh38
NC_000015.9:g.68500646G>T , CM000677.1:g.68500646G>T	GRCh37
NC_000015.8:g.66287700G>T	NCBI36
NG_008764.2:g.53904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.768C>A MANE Select	ENSP00000249806.5:p.Asp256Glu
ENST00000562767.2:c.84-10680C>A	ENSP00000456336.1:n.84-10680C>A
ENST00000565471.6:c.309C>A	ENSP00000457384.1:p.Asp103Glu
ENST00000635747.1:c.*671C>A	ENSP00000490627.1:n.*671C>A
ENST00000636212.1:c.*438C>A	ENSP00000489851.1:n.*438C>A
ENST00000636674.1:n.1870C>A
ENST00000636964.1:n.2296C>A
ENST00000637054.1:c.198+10228C>A	ENSP00000490807.1:n.198+10228C>A
ENST00000637329.1:c.737C>A
ENST00000637450.1:c.*422C>A	ENSP00000490204.1:n.*422C>A
ENST00000637494.1:c.480C>A	ENSP00000490057.1:p.Asp160Glu
ENST00000637667.1:c.669C>A	ENSP00000489843.1:p.Asp223Glu
ENST00000637823.1:c.593C>A
ENST00000637888.1:c.198+10228C>A	ENSP00000490546.1:n.198+10228C>A
ENST00000638076.1:c.*371C>A	ENSP00000490373.1:n.*371C>A
ENST00000638144.1:n.411C>A
ENST00000646164.1:c.39-8627C>A
ENST00000249806.9:c.768C>A	ENSP00000249806.5:p.Asp256Glu
ENST00000538696.5:c.864C>A	ENSP00000445770.1:p.Asp288Glu
ENST00000562767.1:c.84-10680C>A	ENSP00000456336.1:n.84-10680C>A
ENST00000565471.5:c.309C>A	ENSP00000457384.1:p.Asp103Glu
ENST00000566347.5:c.579C>A	ENSP00000457783.1:p.Asp193Glu
ENST00000567060.5:c.*166C>A	ENSP00000454818.1:n.*166C>A
NM_017882.2:c.768C>A	NP_060352.1:p.Asp256Glu
NM_017882.3:c.768C>A MANE Select	NP_060352.1:p.Asp256Glu