Canonical Allele Identifier: CA392971920

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500614G>C (hg19) ; chr15:g.68208276G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208276G>C , CM000677.2:g.68208276G>C	GRCh38
NC_000015.9:g.68500614G>C , CM000677.1:g.68500614G>C	GRCh37
NC_000015.8:g.66287668G>C	NCBI36
NG_008764.2:g.53936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.800C>G MANE Select	ENSP00000249806.5:p.Ala267Gly
ENST00000562767.2:c.84-10648C>G	ENSP00000456336.1:n.84-10648C>G
ENST00000565471.6:c.341C>G	ENSP00000457384.1:p.Ala114Gly
ENST00000635747.1:c.*703C>G	ENSP00000490627.1:n.*703C>G
ENST00000636212.1:c.*470C>G	ENSP00000489851.1:n.*470C>G
ENST00000636674.1:n.1902C>G
ENST00000636964.1:n.2328C>G
ENST00000637054.1:c.198+10260C>G	ENSP00000490807.1:n.198+10260C>G
ENST00000637329.1:c.769C>G
ENST00000637450.1:c.*454C>G	ENSP00000490204.1:n.*454C>G
ENST00000637494.1:c.512C>G	ENSP00000490057.1:p.Ala171Gly
ENST00000637667.1:c.701C>G	ENSP00000489843.1:p.Ala234Gly
ENST00000637823.1:c.625C>G
ENST00000637888.1:c.198+10260C>G	ENSP00000490546.1:n.198+10260C>G
ENST00000638076.1:c.*403C>G	ENSP00000490373.1:n.*403C>G
ENST00000638144.1:n.443C>G
ENST00000646164.1:c.39-8595C>G
ENST00000249806.9:c.800C>G	ENSP00000249806.5:p.Ala267Gly
ENST00000538696.5:c.896C>G	ENSP00000445770.1:p.Ala299Gly
ENST00000562767.1:c.84-10648C>G	ENSP00000456336.1:n.84-10648C>G
ENST00000565471.5:c.341C>G	ENSP00000457384.1:p.Ala114Gly
ENST00000566347.5:c.611C>G	ENSP00000457783.1:p.Ala204Gly
ENST00000567060.5:c.*198C>G	ENSP00000454818.1:n.*198C>G
NM_017882.2:c.800C>G	NP_060352.1:p.Ala267Gly
NM_017882.3:c.800C>G MANE Select	NP_060352.1:p.Ala267Gly