Canonical Allele Identifier: CA16619998

Gene: CLN6

Linked Data

• ClinVar Variation Id: 420301
• ClinVar RCV Id: RCV000477996
• dbSNP Id: rs950362413
• gnomAD v3: 15-68208328-G-C
• gnomAD v4: 15-68208328-G-C
• MyVariant Identifiers: chr15:g.68500666G>C (hg19) ; chr15:g.68208328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208328G>C , CM000677.2:g.68208328G>C	GRCh38
NC_000015.9:g.68500666G>C , CM000677.1:g.68500666G>C	GRCh37
NC_000015.8:g.66287720G>C	NCBI36
NG_008764.2:g.53884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.748C>G MANE Select	ENSP00000249806.5:p.Arg250Gly
ENST00000562767.2:c.84-10700C>G	ENSP00000456336.1:n.84-10700C>G
ENST00000565471.6:c.289C>G	ENSP00000457384.1:p.Arg97Gly
ENST00000635747.1:c.*651C>G	ENSP00000490627.1:n.*651C>G
ENST00000636212.1:c.*418C>G	ENSP00000489851.1:n.*418C>G
ENST00000636674.1:n.1850C>G
ENST00000636964.1:n.2276C>G
ENST00000637054.1:c.198+10208C>G	ENSP00000490807.1:n.198+10208C>G
ENST00000637329.1:c.717C>G
ENST00000637450.1:c.*402C>G	ENSP00000490204.1:n.*402C>G
ENST00000637494.1:c.460C>G	ENSP00000490057.1:p.Arg154Gly
ENST00000637667.1:c.649C>G	ENSP00000489843.1:p.Arg217Gly
ENST00000637823.1:c.573C>G
ENST00000637888.1:c.198+10208C>G	ENSP00000490546.1:n.198+10208C>G
ENST00000638076.1:c.*351C>G	ENSP00000490373.1:n.*351C>G
ENST00000638144.1:n.391C>G
ENST00000646164.1:c.39-8647C>G
ENST00000249806.9:c.748C>G	ENSP00000249806.5:p.Arg250Gly
ENST00000538696.5:c.844C>G	ENSP00000445770.1:p.Arg282Gly
ENST00000562767.1:c.84-10700C>G	ENSP00000456336.1:n.84-10700C>G
ENST00000564752.1:c.*132C>G	ENSP00000457822.1:n.*132C>G
ENST00000565471.5:c.289C>G	ENSP00000457384.1:p.Arg97Gly
ENST00000566347.5:c.559C>G	ENSP00000457783.1:p.Arg187Gly
ENST00000567060.5:c.*146C>G	ENSP00000454818.1:n.*146C>G
NM_017882.2:c.748C>G	NP_060352.1:p.Arg250Gly
NM_017882.3:c.748C>G MANE Select	NP_060352.1:p.Arg250Gly