Canonical Allele Identifier: CA392973604

Gene: CLN6

Linked Data

• ClinVar Variation Id: 842017
• ClinVar RCV Id: RCV001044353
• dbSNP Id: rs2093206402
• gnomAD v3: 15-68211815-T-C
• gnomAD v4: 15-68211815-T-C
• MyVariant Identifiers: chr15:g.68504153T>C (hg19) ; chr15:g.68211815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211815T>C , CM000677.2:g.68211815T>C	GRCh38
NC_000015.9:g.68504153T>C , CM000677.1:g.68504153T>C	GRCh37
NC_000015.8:g.66291207T>C	NCBI36
NG_008764.2:g.50397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.346A>G MANE Select	ENSP00000249806.5:p.Ser116Gly
ENST00000562767.2:c.84-14187A>G	ENSP00000456336.1:n.84-14187A>G
ENST00000563917.2:n.188A>G
ENST00000565471.6:c.84-2056A>G	ENSP00000457384.1:n.84-2056A>G
ENST00000635747.1:c.*249A>G	ENSP00000490627.1:n.*249A>G
ENST00000636212.1:c.298-74A>G	ENSP00000489851.1:n.298-74A>G
ENST00000636314.1:c.183-497A>G	ENSP00000490295.1:n.183-497A>G
ENST00000636674.1:n.1329A>G
ENST00000636964.1:n.1518A>G
ENST00000637054.1:c.198+6721A>G	ENSP00000490807.1:n.198+6721A>G
ENST00000637223.1:c.*201-497A>G	ENSP00000490010.1:n.*201-497A>G
ENST00000637329.1:c.315A>G
ENST00000637450.1:c.231A>G	ENSP00000490204.1:p.Ter77Trp
ENST00000637494.1:c.199-497A>G	ENSP00000490057.1:n.199-497A>G
ENST00000637667.1:c.247A>G	ENSP00000489843.1:p.Ser83Gly
ENST00000637823.1:c.224-172A>G
ENST00000637888.1:c.198+6721A>G	ENSP00000490546.1:n.198+6721A>G
ENST00000638076.1:c.346A>G	ENSP00000490373.1:p.Ser116Gly
ENST00000638144.1:n.130-497A>G
ENST00000646164.1:c.38+6721A>G
ENST00000249806.9:c.346A>G	ENSP00000249806.5:p.Ser116Gly
ENST00000538696.5:c.442A>G	ENSP00000445770.1:p.Ser148Gly
ENST00000562767.1:c.84-14187A>G	ENSP00000456336.1:n.84-14187A>G
ENST00000563917.1:n.127A>G
ENST00000564752.1:c.346A>G	ENSP00000457822.1:p.Ser116Gly
ENST00000565471.5:c.84-2056A>G	ENSP00000457384.1:n.84-2056A>G
ENST00000566347.5:c.298-497A>G	ENSP00000457783.1:n.298-497A>G
ENST00000567060.5:c.298-2095A>G	ENSP00000454818.1:n.298-2095A>G
NM_017882.2:c.346A>G	NP_060352.1:p.Ser116Gly
XR_931861.1:n.449A>G
NM_017882.3:c.346A>G MANE Select	NP_060352.1:p.Ser116Gly