Canonical Allele Identifier: CA392973123

Gene: CLN6

Linked Data

• dbSNP Id: rs2093204225
• gnomAD v3: 15-68211276-C-T
• gnomAD v4: 15-68211276-C-T
• MyVariant Identifiers: chr15:g.68503614C>T (hg19) ; chr15:g.68211276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211276C>T , CM000677.2:g.68211276C>T	GRCh38
NC_000015.9:g.68503614C>T , CM000677.1:g.68503614C>T	GRCh37
NC_000015.8:g.66290668C>T	NCBI36
NG_008764.2:g.50936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.529G>A MANE Select	ENSP00000249806.5:p.Gly177Ser
ENST00000562767.2:c.84-13648G>A	ENSP00000456336.1:n.84-13648G>A
ENST00000563917.2:n.371G>A
ENST00000565471.6:c.84-1517G>A	ENSP00000457384.1:n.84-1517G>A
ENST00000635747.1:c.*432G>A	ENSP00000490627.1:n.*432G>A
ENST00000636212.1:c.*199G>A	ENSP00000489851.1:n.*199G>A
ENST00000636314.1:c.225G>A	ENSP00000490295.1:p.Trp75Ter
ENST00000636674.1:n.1631G>A
ENST00000636964.1:n.2057G>A
ENST00000637054.1:c.198+7260G>A	ENSP00000490807.1:n.198+7260G>A
ENST00000637223.1:c.*243G>A	ENSP00000490010.1:n.*243G>A
ENST00000637329.1:c.498G>A
ENST00000637450.1:c.*183G>A	ENSP00000490204.1:n.*183G>A
ENST00000637494.1:c.241G>A	ENSP00000490057.1:p.Gly81Ser
ENST00000637667.1:c.430G>A	ENSP00000489843.1:p.Gly144Ser
ENST00000637823.1:c.354G>A
ENST00000637888.1:c.198+7260G>A	ENSP00000490546.1:n.198+7260G>A
ENST00000638076.1:c.*132G>A	ENSP00000490373.1:n.*132G>A
ENST00000638144.1:n.172G>A
ENST00000646164.1:c.38+7260G>A
ENST00000249806.9:c.529G>A	ENSP00000249806.5:p.Gly177Ser
ENST00000538696.5:c.625G>A	ENSP00000445770.1:p.Gly209Ser
ENST00000562767.1:c.84-13648G>A	ENSP00000456336.1:n.84-13648G>A
ENST00000563917.1:n.429G>A
ENST00000564752.1:c.555G>A	ENSP00000457822.1:p.Trp185Ter
ENST00000565471.5:c.84-1517G>A	ENSP00000457384.1:n.84-1517G>A
ENST00000566347.5:c.340G>A	ENSP00000457783.1:p.Gly114Ser
ENST00000567060.5:c.298-1556G>A	ENSP00000454818.1:n.298-1556G>A
NM_017882.2:c.529G>A	NP_060352.1:p.Gly177Ser
XR_931861.1:n.751G>A
NM_017882.3:c.529G>A MANE Select	NP_060352.1:p.Gly177Ser