Canonical Allele Identifier: CA392971762

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500565G>C (hg19) ; chr15:g.68208227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208227G>C , CM000677.2:g.68208227G>C	GRCh38
NC_000015.9:g.68500565G>C , CM000677.1:g.68500565G>C	GRCh37
NC_000015.8:g.66287619G>C	NCBI36
NG_008764.2:g.53985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.849C>G MANE Select	ENSP00000249806.5:p.Asp283Glu
ENST00000562767.2:c.84-10599C>G	ENSP00000456336.1:n.84-10599C>G
ENST00000565471.6:c.390C>G	ENSP00000457384.1:p.Asp130Glu
ENST00000635747.1:c.*752C>G	ENSP00000490627.1:n.*752C>G
ENST00000636212.1:c.*519C>G	ENSP00000489851.1:n.*519C>G
ENST00000636674.1:n.1951C>G
ENST00000636964.1:n.2377C>G
ENST00000637054.1:c.198+10309C>G	ENSP00000490807.1:n.198+10309C>G
ENST00000637329.1:c.818C>G
ENST00000637450.1:c.*503C>G	ENSP00000490204.1:n.*503C>G
ENST00000637494.1:c.561C>G	ENSP00000490057.1:p.Asp187Glu
ENST00000637667.1:c.750C>G	ENSP00000489843.1:p.Asp250Glu
ENST00000637823.1:c.674C>G
ENST00000637888.1:c.198+10309C>G	ENSP00000490546.1:n.198+10309C>G
ENST00000638076.1:c.*452C>G	ENSP00000490373.1:n.*452C>G
ENST00000638144.1:n.492C>G
ENST00000646164.1:c.39-8546C>G
ENST00000249806.9:c.849C>G	ENSP00000249806.5:p.Asp283Glu
ENST00000538696.5:c.945C>G	ENSP00000445770.1:p.Asp315Glu
ENST00000562767.1:c.84-10599C>G	ENSP00000456336.1:n.84-10599C>G
ENST00000565471.5:c.390C>G	ENSP00000457384.1:p.Asp130Glu
ENST00000566347.5:c.660C>G	ENSP00000457783.1:p.Asp220Glu
ENST00000567060.5:c.*247C>G	ENSP00000454818.1:n.*247C>G
NM_017882.2:c.849C>G	NP_060352.1:p.Asp283Glu
NM_017882.3:c.849C>G MANE Select	NP_060352.1:p.Asp283Glu