Canonical Allele Identifier: CA392972960

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502058G>C (hg19) ; chr15:g.68209720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209720G>C , CM000677.2:g.68209720G>C	GRCh38
NC_000015.9:g.68502058G>C , CM000677.1:g.68502058G>C	GRCh37
NC_000015.8:g.66289112G>C	NCBI36
NG_008764.2:g.52492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.582C>G MANE Select	ENSP00000249806.5:p.Ser194Arg
ENST00000562767.2:c.84-12092C>G	ENSP00000456336.1:n.84-12092C>G
ENST00000563917.2:n.424C>G
ENST00000565471.6:c.123C>G	ENSP00000457384.1:p.Ser41Arg
ENST00000635747.1:c.*485C>G	ENSP00000490627.1:n.*485C>G
ENST00000636212.1:c.*252C>G	ENSP00000489851.1:n.*252C>G
ENST00000636314.1:c.278C>G	ENSP00000490295.1:p.Ala93Gly
ENST00000636674.1:n.1684C>G
ENST00000636964.1:n.2110C>G
ENST00000637054.1:c.198+8816C>G	ENSP00000490807.1:n.198+8816C>G
ENST00000637223.1:c.*296C>G	ENSP00000490010.1:n.*296C>G
ENST00000637329.1:c.551C>G
ENST00000637450.1:c.*236C>G	ENSP00000490204.1:n.*236C>G
ENST00000637494.1:c.294C>G	ENSP00000490057.1:p.Ser98Arg
ENST00000637667.1:c.483C>G	ENSP00000489843.1:p.Ser161Arg
ENST00000637823.1:c.407C>G
ENST00000637888.1:c.198+8816C>G	ENSP00000490546.1:n.198+8816C>G
ENST00000638076.1:c.*185C>G	ENSP00000490373.1:n.*185C>G
ENST00000638144.1:n.225C>G
ENST00000646164.1:c.38+8816C>G
ENST00000249806.9:c.582C>G	ENSP00000249806.5:p.Ser194Arg
ENST00000538696.5:c.678C>G	ENSP00000445770.1:p.Ser226Arg
ENST00000562767.1:c.84-12092C>G	ENSP00000456336.1:n.84-12092C>G
ENST00000563917.1:n.482C>G
ENST00000564752.1:c.608C>G	ENSP00000457822.1:p.Ala203Gly
ENST00000565471.5:c.123C>G	ENSP00000457384.1:p.Ser41Arg
ENST00000566347.5:c.393C>G	ENSP00000457783.1:p.Ser131Arg
ENST00000567060.5:c.298C>G	ENSP00000454818.1:p.Arg100Gly
NM_017882.2:c.582C>G	NP_060352.1:p.Ser194Arg
XR_931861.1:n.804C>G
NM_017882.3:c.582C>G MANE Select	NP_060352.1:p.Ser194Arg