Canonical Allele Identifier: CA392973691

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211850-G-C
• MyVariant Identifiers: chr15:g.68504188G>C (hg19) ; chr15:g.68211850G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211850G>C , CM000677.2:g.68211850G>C	GRCh38
NC_000015.9:g.68504188G>C , CM000677.1:g.68504188G>C	GRCh37
NC_000015.8:g.66291242G>C	NCBI36
NG_008764.2:g.50362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.311C>G MANE Select	ENSP00000249806.5:p.Ser104Cys
ENST00000562767.2:c.84-14222C>G	ENSP00000456336.1:n.84-14222C>G
ENST00000563917.2:n.153C>G
ENST00000565471.6:c.84-2091C>G	ENSP00000457384.1:n.84-2091C>G
ENST00000635747.1:c.*214C>G	ENSP00000490627.1:n.*214C>G
ENST00000636212.1:c.298-109C>G	ENSP00000489851.1:n.298-109C>G
ENST00000636314.1:c.183-532C>G	ENSP00000490295.1:n.183-532C>G
ENST00000636674.1:n.1294C>G
ENST00000636964.1:n.1483C>G
ENST00000637054.1:c.198+6686C>G	ENSP00000490807.1:n.198+6686C>G
ENST00000637223.1:c.*201-532C>G	ENSP00000490010.1:n.*201-532C>G
ENST00000637329.1:c.280C>G
ENST00000637450.1:c.196C>G	ENSP00000490204.1:p.Pro66Ala
ENST00000637494.1:c.199-532C>G	ENSP00000490057.1:n.199-532C>G
ENST00000637667.1:c.212C>G	ENSP00000489843.1:p.Ser71Cys
ENST00000637823.1:c.224-207C>G
ENST00000637888.1:c.198+6686C>G	ENSP00000490546.1:n.198+6686C>G
ENST00000638076.1:c.311C>G	ENSP00000490373.1:p.Ser104Cys
ENST00000638144.1:n.130-532C>G
ENST00000646164.1:c.38+6686C>G
ENST00000249806.9:c.311C>G	ENSP00000249806.5:p.Ser104Cys
ENST00000538696.5:c.407C>G	ENSP00000445770.1:p.Ser136Cys
ENST00000562767.1:c.84-14222C>G	ENSP00000456336.1:n.84-14222C>G
ENST00000563917.1:n.92C>G
ENST00000564752.1:c.311C>G	ENSP00000457822.1:p.Ser104Cys
ENST00000565471.5:c.84-2091C>G	ENSP00000457384.1:n.84-2091C>G
ENST00000566347.5:c.298-532C>G	ENSP00000457783.1:n.298-532C>G
ENST00000567060.5:c.298-2130C>G	ENSP00000454818.1:n.298-2130C>G
NM_017882.2:c.311C>G	NP_060352.1:p.Ser104Cys
XR_931861.1:n.414C>G
NM_017882.3:c.311C>G MANE Select	NP_060352.1:p.Ser104Cys