Canonical Allele Identifier: CA490912908

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1078811
• ClinVar RCV Id: RCV001393847
• dbSNP Id: rs2093206218
• gnomAD v4: 15-68211786-G-A
• MyVariant Identifiers: chr15:g.68504124G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211786G>A , CM000677.2:g.68211786G>A	GRCh38
NC_000015.9:g.68504124G>A , CM000677.1:g.68504124G>A	GRCh37
NC_000015.8:g.66291178G>A	NCBI36
NG_008764.2:g.50426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.375C>T MANE Select	ENSP00000249806.5:p.Ser125=
ENST00000562767.2:c.84-14158C>T	ENSP00000456336.1:n.84-14158C>T
ENST00000563917.2:n.217C>T
ENST00000565471.6:c.84-2027C>T	ENSP00000457384.1:n.84-2027C>T
ENST00000635747.1:c.*278C>T	ENSP00000490627.1:n.*278C>T
ENST00000636212.1:c.298-45C>T	ENSP00000489851.1:n.298-45C>T
ENST00000636314.1:c.183-468C>T	ENSP00000490295.1:n.183-468C>T
ENST00000636674.1:n.1358C>T
ENST00000636964.1:n.1547C>T
ENST00000637054.1:c.198+6750C>T	ENSP00000490807.1:n.198+6750C>T
ENST00000637223.1:c.*201-468C>T	ENSP00000490010.1:n.*201-468C>T
ENST00000637329.1:c.344C>T
ENST00000637450.1:c.*29C>T	ENSP00000490204.1:n.*29C>T
ENST00000637494.1:c.199-468C>T	ENSP00000490057.1:n.199-468C>T
ENST00000637667.1:c.276C>T	ENSP00000489843.1:p.Ser92=
ENST00000637823.1:c.224-143C>T
ENST00000637888.1:c.198+6750C>T	ENSP00000490546.1:n.198+6750C>T
ENST00000638076.1:c.375C>T	ENSP00000490373.1:p.Ser125=
ENST00000638144.1:n.130-468C>T
ENST00000646164.1:c.38+6750C>T
ENST00000249806.9:c.375C>T	ENSP00000249806.5:p.Ser125=
ENST00000538696.5:c.471C>T	ENSP00000445770.1:p.Ser157=
ENST00000562767.1:c.84-14158C>T	ENSP00000456336.1:n.84-14158C>T
ENST00000563917.1:n.156C>T
ENST00000564752.1:c.375C>T	ENSP00000457822.1:p.Ser125=
ENST00000565471.5:c.84-2027C>T	ENSP00000457384.1:n.84-2027C>T
ENST00000566347.5:c.298-468C>T	ENSP00000457783.1:n.298-468C>T
ENST00000567060.5:c.298-2066C>T	ENSP00000454818.1:n.298-2066C>T
NM_017882.2:c.375C>T	NP_060352.1:p.Ser125=
XR_931861.1:n.478C>T
NM_017882.3:c.375C>T MANE Select	NP_060352.1:p.Ser125=