Canonical Allele Identifier: CA392971970

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500638C>A (hg19) ; chr15:g.68208300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208300C>A , CM000677.2:g.68208300C>A	GRCh38
NC_000015.9:g.68500638C>A , CM000677.1:g.68500638C>A	GRCh37
NC_000015.8:g.66287692C>A	NCBI36
NG_008764.2:g.53912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.776G>T MANE Select	ENSP00000249806.5:p.Gly259Val
ENST00000562767.2:c.84-10672G>T	ENSP00000456336.1:n.84-10672G>T
ENST00000565471.6:c.317G>T	ENSP00000457384.1:p.Gly106Val
ENST00000635747.1:c.*679G>T	ENSP00000490627.1:n.*679G>T
ENST00000636212.1:c.*446G>T	ENSP00000489851.1:n.*446G>T
ENST00000636674.1:n.1878G>T
ENST00000636964.1:n.2304G>T
ENST00000637054.1:c.198+10236G>T	ENSP00000490807.1:n.198+10236G>T
ENST00000637329.1:c.745G>T
ENST00000637450.1:c.*430G>T	ENSP00000490204.1:n.*430G>T
ENST00000637494.1:c.488G>T	ENSP00000490057.1:p.Gly163Val
ENST00000637667.1:c.677G>T	ENSP00000489843.1:p.Gly226Val
ENST00000637823.1:c.601G>T
ENST00000637888.1:c.198+10236G>T	ENSP00000490546.1:n.198+10236G>T
ENST00000638076.1:c.*379G>T	ENSP00000490373.1:n.*379G>T
ENST00000638144.1:n.419G>T
ENST00000646164.1:c.39-8619G>T
ENST00000249806.9:c.776G>T	ENSP00000249806.5:p.Gly259Val
ENST00000538696.5:c.872G>T	ENSP00000445770.1:p.Gly291Val
ENST00000562767.1:c.84-10672G>T	ENSP00000456336.1:n.84-10672G>T
ENST00000565471.5:c.317G>T	ENSP00000457384.1:p.Gly106Val
ENST00000566347.5:c.587G>T	ENSP00000457783.1:p.Gly196Val
ENST00000567060.5:c.*174G>T	ENSP00000454818.1:n.*174G>T
NM_017882.2:c.776G>T	NP_060352.1:p.Gly259Val
NM_017882.3:c.776G>T MANE Select	NP_060352.1:p.Gly259Val