Canonical Allele Identifier: CA392972195

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500704G>C (hg19) ; chr15:g.68208366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208366G>C , CM000677.2:g.68208366G>C	GRCh38
NC_000015.9:g.68500704G>C , CM000677.1:g.68500704G>C	GRCh37
NC_000015.8:g.66287758G>C	NCBI36
NG_008764.2:g.53846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.710C>G MANE Select	ENSP00000249806.5:p.Thr237Ser
ENST00000562767.2:c.84-10738C>G	ENSP00000456336.1:n.84-10738C>G
ENST00000563917.2:n.552C>G
ENST00000565471.6:c.251C>G	ENSP00000457384.1:p.Thr84Ser
ENST00000635747.1:c.*613C>G	ENSP00000490627.1:n.*613C>G
ENST00000636212.1:c.*380C>G	ENSP00000489851.1:n.*380C>G
ENST00000636674.1:n.1812C>G
ENST00000636964.1:n.2238C>G
ENST00000637054.1:c.198+10170C>G	ENSP00000490807.1:n.198+10170C>G
ENST00000637329.1:c.679C>G
ENST00000637450.1:c.*364C>G	ENSP00000490204.1:n.*364C>G
ENST00000637494.1:c.422C>G	ENSP00000490057.1:p.Thr141Ser
ENST00000637667.1:c.611C>G	ENSP00000489843.1:p.Thr204Ser
ENST00000637823.1:c.535C>G
ENST00000637888.1:c.198+10170C>G	ENSP00000490546.1:n.198+10170C>G
ENST00000638076.1:c.*313C>G	ENSP00000490373.1:n.*313C>G
ENST00000638144.1:n.353C>G
ENST00000646164.1:c.39-8685C>G
ENST00000249806.9:c.710C>G	ENSP00000249806.5:p.Thr237Ser
ENST00000538696.5:c.806C>G	ENSP00000445770.1:p.Thr269Ser
ENST00000562767.1:c.84-10738C>G	ENSP00000456336.1:n.84-10738C>G
ENST00000564752.1:c.*94C>G	ENSP00000457822.1:n.*94C>G
ENST00000565471.5:c.251C>G	ENSP00000457384.1:p.Thr84Ser
ENST00000566347.5:c.521C>G	ENSP00000457783.1:p.Thr174Ser
ENST00000567060.5:c.*108C>G	ENSP00000454818.1:n.*108C>G
NM_017882.2:c.710C>G	NP_060352.1:p.Thr237Ser
NM_017882.3:c.710C>G MANE Select	NP_060352.1:p.Thr237Ser