Canonical Allele Identifier: CA392971487

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500486G>C (hg19) ; chr15:g.68208148G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208148G>C , CM000677.2:g.68208148G>C	GRCh38
NC_000015.9:g.68500486G>C , CM000677.1:g.68500486G>C	GRCh37
NC_000015.8:g.66287540G>C	NCBI36
NG_008764.2:g.54064C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.928C>G MANE Select	ENSP00000249806.5:p.Arg310Gly
ENST00000562767.2:c.84-10520C>G	ENSP00000456336.1:n.84-10520C>G
ENST00000565471.6:c.469C>G	ENSP00000457384.1:p.Arg157Gly
ENST00000635747.1:c.*831C>G	ENSP00000490627.1:n.*831C>G
ENST00000636964.1:n.2456C>G
ENST00000637054.1:c.198+10388C>G	ENSP00000490807.1:n.198+10388C>G
ENST00000637329.1:c.897C>G
ENST00000637494.1:c.640C>G	ENSP00000490057.1:p.Arg214Gly
ENST00000637888.1:c.198+10388C>G	ENSP00000490546.1:n.198+10388C>G
ENST00000638076.1:c.*531C>G	ENSP00000490373.1:n.*531C>G
ENST00000638144.1:n.571C>G
ENST00000646164.1:c.39-8467C>G
ENST00000249806.9:c.928C>G	ENSP00000249806.5:p.Arg310Gly
ENST00000538696.5:c.1024C>G	ENSP00000445770.1:p.Arg342Gly
ENST00000562767.1:c.84-10520C>G	ENSP00000456336.1:n.84-10520C>G
ENST00000565471.5:c.469C>G	ENSP00000457384.1:p.Arg157Gly
ENST00000566347.5:c.739C>G	ENSP00000457783.1:p.Arg247Gly
ENST00000567060.5:c.*326C>G	ENSP00000454818.1:n.*326C>G
NM_017882.2:c.928C>G	NP_060352.1:p.Arg310Gly
NM_017882.3:c.928C>G MANE Select	NP_060352.1:p.Arg310Gly