Canonical Allele Identifier: CA392973439

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211739-C-G
• MyVariant Identifiers: chr15:g.68504077C>G (hg19) ; chr15:g.68211739C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211739C>G , CM000677.2:g.68211739C>G	GRCh38
NC_000015.9:g.68504077C>G , CM000677.1:g.68504077C>G	GRCh37
NC_000015.8:g.66291131C>G	NCBI36
NG_008764.2:g.50473G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.422G>C MANE Select	ENSP00000249806.5:p.Gly141Ala
ENST00000562767.2:c.84-14111G>C	ENSP00000456336.1:n.84-14111G>C
ENST00000563917.2:n.264G>C
ENST00000565471.6:c.84-1980G>C	ENSP00000457384.1:n.84-1980G>C
ENST00000635747.1:c.*325G>C	ENSP00000490627.1:n.*325G>C
ENST00000636212.1:c.300G>C	ENSP00000489851.1:p.Trp100Cys
ENST00000636314.1:c.183-421G>C	ENSP00000490295.1:n.183-421G>C
ENST00000636674.1:n.1405G>C
ENST00000636964.1:n.1594G>C
ENST00000637054.1:c.198+6797G>C	ENSP00000490807.1:n.198+6797G>C
ENST00000637223.1:c.*201-421G>C	ENSP00000490010.1:n.*201-421G>C
ENST00000637329.1:c.391G>C
ENST00000637450.1:c.*76G>C	ENSP00000490204.1:n.*76G>C
ENST00000637494.1:c.199-421G>C	ENSP00000490057.1:n.199-421G>C
ENST00000637667.1:c.323G>C	ENSP00000489843.1:p.Gly108Ala
ENST00000637823.1:c.224-96G>C
ENST00000637888.1:c.198+6797G>C	ENSP00000490546.1:n.198+6797G>C
ENST00000638076.1:c.422G>C	ENSP00000490373.1:p.Gly141Ala
ENST00000638144.1:n.130-421G>C
ENST00000646164.1:c.38+6797G>C
ENST00000249806.9:c.422G>C	ENSP00000249806.5:p.Gly141Ala
ENST00000538696.5:c.518G>C	ENSP00000445770.1:p.Gly173Ala
ENST00000562767.1:c.84-14111G>C	ENSP00000456336.1:n.84-14111G>C
ENST00000563917.1:n.203G>C
ENST00000564752.1:c.422G>C	ENSP00000457822.1:p.Gly141Ala
ENST00000565471.5:c.84-1980G>C	ENSP00000457384.1:n.84-1980G>C
ENST00000566347.5:c.298-421G>C	ENSP00000457783.1:n.298-421G>C
ENST00000567060.5:c.298-2019G>C	ENSP00000454818.1:n.298-2019G>C
NM_017882.2:c.422G>C	NP_060352.1:p.Gly141Ala
XR_931861.1:n.525G>C
NM_017882.3:c.422G>C MANE Select	NP_060352.1:p.Gly141Ala