Canonical Allele Identifier: CA392972070

Gene: CLN6

Linked Data

• dbSNP Id: rs140653271
• gnomAD v2: 15-68500673-G-C
• gnomAD v4: 15-68208335-G-C
• MyVariant Identifiers: chr15:g.68500673G>C (hg19) ; chr15:g.68208335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208335G>C , CM000677.2:g.68208335G>C	GRCh38
NC_000015.9:g.68500673G>C , CM000677.1:g.68500673G>C	GRCh37
NC_000015.8:g.66287727G>C	NCBI36
NG_008764.2:g.53877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.741C>G MANE Select	ENSP00000249806.5:p.His247Gln
ENST00000562767.2:c.84-10707C>G	ENSP00000456336.1:n.84-10707C>G
ENST00000565471.6:c.282C>G	ENSP00000457384.1:p.His94Gln
ENST00000635747.1:c.*644C>G	ENSP00000490627.1:n.*644C>G
ENST00000636212.1:c.*411C>G	ENSP00000489851.1:n.*411C>G
ENST00000636674.1:n.1843C>G
ENST00000636964.1:n.2269C>G
ENST00000637054.1:c.198+10201C>G	ENSP00000490807.1:n.198+10201C>G
ENST00000637329.1:c.710C>G
ENST00000637450.1:c.*395C>G	ENSP00000490204.1:n.*395C>G
ENST00000637494.1:c.453C>G	ENSP00000490057.1:p.His151Gln
ENST00000637667.1:c.642C>G	ENSP00000489843.1:p.His214Gln
ENST00000637823.1:c.566C>G
ENST00000637888.1:c.198+10201C>G	ENSP00000490546.1:n.198+10201C>G
ENST00000638076.1:c.*344C>G	ENSP00000490373.1:n.*344C>G
ENST00000638144.1:n.384C>G
ENST00000646164.1:c.39-8654C>G
ENST00000249806.9:c.741C>G	ENSP00000249806.5:p.His247Gln
ENST00000538696.5:c.837C>G	ENSP00000445770.1:p.His279Gln
ENST00000562767.1:c.84-10707C>G	ENSP00000456336.1:n.84-10707C>G
ENST00000564752.1:c.*125C>G	ENSP00000457822.1:n.*125C>G
ENST00000565471.5:c.282C>G	ENSP00000457384.1:p.His94Gln
ENST00000566347.5:c.552C>G	ENSP00000457783.1:p.His184Gln
ENST00000567060.5:c.*139C>G	ENSP00000454818.1:n.*139C>G
NM_017882.2:c.741C>G	NP_060352.1:p.His247Gln
NM_017882.3:c.741C>G MANE Select	NP_060352.1:p.His247Gln