Canonical Allele Identifier: CA392971612

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500522C>A (hg19) ; chr15:g.68208184C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208184C>A , CM000677.2:g.68208184C>A	GRCh38
NC_000015.9:g.68500522C>A , CM000677.1:g.68500522C>A	GRCh37
NC_000015.8:g.66287576C>A	NCBI36
NG_008764.2:g.54028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.892G>T MANE Select	ENSP00000249806.5:p.Glu298Ter
ENST00000562767.2:c.84-10556G>T	ENSP00000456336.1:n.84-10556G>T
ENST00000565471.6:c.433G>T	ENSP00000457384.1:p.Glu145Ter
ENST00000635747.1:c.*795G>T	ENSP00000490627.1:n.*795G>T
ENST00000636212.1:c.*562G>T	ENSP00000489851.1:n.*562G>T
ENST00000636674.1:n.1994G>T
ENST00000636964.1:n.2420G>T
ENST00000637054.1:c.198+10352G>T	ENSP00000490807.1:n.198+10352G>T
ENST00000637329.1:c.861G>T
ENST00000637494.1:c.604G>T	ENSP00000490057.1:p.Glu202Ter
ENST00000637823.1:c.717G>T
ENST00000637888.1:c.198+10352G>T	ENSP00000490546.1:n.198+10352G>T
ENST00000638076.1:c.*495G>T	ENSP00000490373.1:n.*495G>T
ENST00000638144.1:n.535G>T
ENST00000646164.1:c.39-8503G>T
ENST00000249806.9:c.892G>T	ENSP00000249806.5:p.Glu298Ter
ENST00000538696.5:c.988G>T	ENSP00000445770.1:p.Glu330Ter
ENST00000562767.1:c.84-10556G>T	ENSP00000456336.1:n.84-10556G>T
ENST00000565471.5:c.433G>T	ENSP00000457384.1:p.Glu145Ter
ENST00000566347.5:c.703G>T	ENSP00000457783.1:p.Glu235Ter
ENST00000567060.5:c.*290G>T	ENSP00000454818.1:n.*290G>T
NM_017882.2:c.892G>T	NP_060352.1:p.Glu298Ter
NM_017882.3:c.892G>T MANE Select	NP_060352.1:p.Glu298Ter