Canonical Allele Identifier: CA392971909

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500608G>C (hg19) ; chr15:g.68208270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208270G>C , CM000677.2:g.68208270G>C	GRCh38
NC_000015.9:g.68500608G>C , CM000677.1:g.68500608G>C	GRCh37
NC_000015.8:g.66287662G>C	NCBI36
NG_008764.2:g.53942C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.806C>G MANE Select	ENSP00000249806.5:p.Thr269Ser
ENST00000562767.2:c.84-10642C>G	ENSP00000456336.1:n.84-10642C>G
ENST00000565471.6:c.347C>G	ENSP00000457384.1:p.Thr116Ser
ENST00000635747.1:c.*709C>G	ENSP00000490627.1:n.*709C>G
ENST00000636212.1:c.*476C>G	ENSP00000489851.1:n.*476C>G
ENST00000636674.1:n.1908C>G
ENST00000636964.1:n.2334C>G
ENST00000637054.1:c.198+10266C>G	ENSP00000490807.1:n.198+10266C>G
ENST00000637329.1:c.775C>G
ENST00000637450.1:c.*460C>G	ENSP00000490204.1:n.*460C>G
ENST00000637494.1:c.518C>G	ENSP00000490057.1:p.Thr173Ser
ENST00000637667.1:c.707C>G	ENSP00000489843.1:p.Thr236Ser
ENST00000637823.1:c.631C>G
ENST00000637888.1:c.198+10266C>G	ENSP00000490546.1:n.198+10266C>G
ENST00000638076.1:c.*409C>G	ENSP00000490373.1:n.*409C>G
ENST00000638144.1:n.449C>G
ENST00000646164.1:c.39-8589C>G
ENST00000249806.9:c.806C>G	ENSP00000249806.5:p.Thr269Ser
ENST00000538696.5:c.902C>G	ENSP00000445770.1:p.Thr301Ser
ENST00000562767.1:c.84-10642C>G	ENSP00000456336.1:n.84-10642C>G
ENST00000565471.5:c.347C>G	ENSP00000457384.1:p.Thr116Ser
ENST00000566347.5:c.617C>G	ENSP00000457783.1:p.Thr206Ser
ENST00000567060.5:c.*204C>G	ENSP00000454818.1:n.*204C>G
NM_017882.2:c.806C>G	NP_060352.1:p.Thr269Ser
NM_017882.3:c.806C>G MANE Select	NP_060352.1:p.Thr269Ser