Canonical Allele Identifier: CA490913943

Gene: CLN6

Linked Data

• gnomAD v4: 15-68214341-C-T
• MyVariant Identifiers: chr15:g.68506679C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214341C>T , CM000677.2:g.68214341C>T	GRCh38
NC_000015.9:g.68506679C>T , CM000677.1:g.68506679C>T	GRCh37
NC_000015.8:g.66293733C>T	NCBI36
NG_008764.2:g.47871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.246G>A MANE Select	ENSP00000249806.5:p.Gly82=
ENST00000562767.2:c.83+15161G>A	ENSP00000456336.1:n.83+15161G>A
ENST00000563917.2:n.88G>A
ENST00000565471.6:c.84-4582G>A	ENSP00000457384.1:n.84-4582G>A
ENST00000635747.1:c.*149G>A	ENSP00000490627.1:n.*149G>A
ENST00000635754.1:n.1268G>A
ENST00000636020.1:n.378G>A
ENST00000636212.1:c.246G>A	ENSP00000489851.1:p.Gly82=
ENST00000636314.1:c.131G>A	ENSP00000490295.1:p.Gly44Glu
ENST00000637054.1:c.198+4195G>A	ENSP00000490807.1:n.198+4195G>A
ENST00000637223.1:c.*149G>A	ENSP00000490010.1:n.*149G>A
ENST00000637329.1:c.157G>A
ENST00000637450.1:c.131G>A	ENSP00000490204.1:p.Gly44Glu
ENST00000637494.1:c.199-3023G>A	ENSP00000490057.1:n.199-3023G>A
ENST00000637667.1:c.199-2478G>A	ENSP00000489843.1:n.199-2478G>A
ENST00000637823.1:c.172G>A
ENST00000637888.1:c.198+4195G>A	ENSP00000490546.1:n.198+4195G>A
ENST00000638076.1:c.246G>A	ENSP00000490373.1:p.Gly82=
ENST00000638144.1:n.78G>A
ENST00000646164.1:c.38+4195G>A
ENST00000249806.9:c.246G>A	ENSP00000249806.5:p.Gly82=
ENST00000538696.5:c.342G>A	ENSP00000445770.1:p.Gly114=
ENST00000562767.1:c.83+15161G>A	ENSP00000456336.1:n.83+15161G>A
ENST00000563917.1:n.27G>A
ENST00000564752.1:c.246G>A	ENSP00000457822.1:p.Gly82=
ENST00000564846.1:n.678G>A
ENST00000565471.5:c.84-4582G>A	ENSP00000457384.1:n.84-4582G>A
ENST00000566347.5:c.246G>A	ENSP00000457783.1:p.Gly82=
ENST00000567060.5:c.246G>A	ENSP00000454818.1:p.Gly82=
NM_017882.2:c.246G>A	NP_060352.1:p.Gly82=
XR_931861.1:n.349G>A
NM_017882.3:c.246G>A MANE Select	NP_060352.1:p.Gly82=