Canonical Allele Identifier: CA392971928

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500618A>C (hg19) ; chr15:g.68208280A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208280A>C , CM000677.2:g.68208280A>C	GRCh38
NC_000015.9:g.68500618A>C , CM000677.1:g.68500618A>C	GRCh37
NC_000015.8:g.66287672A>C	NCBI36
NG_008764.2:g.53932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.796T>G MANE Select	ENSP00000249806.5:p.Phe266Val
ENST00000562767.2:c.84-10652T>G	ENSP00000456336.1:n.84-10652T>G
ENST00000565471.6:c.337T>G	ENSP00000457384.1:p.Phe113Val
ENST00000635747.1:c.*699T>G	ENSP00000490627.1:n.*699T>G
ENST00000636212.1:c.*466T>G	ENSP00000489851.1:n.*466T>G
ENST00000636674.1:n.1898T>G
ENST00000636964.1:n.2324T>G
ENST00000637054.1:c.198+10256T>G	ENSP00000490807.1:n.198+10256T>G
ENST00000637329.1:c.765T>G
ENST00000637450.1:c.*450T>G	ENSP00000490204.1:n.*450T>G
ENST00000637494.1:c.508T>G	ENSP00000490057.1:p.Phe170Val
ENST00000637667.1:c.697T>G	ENSP00000489843.1:p.Phe233Val
ENST00000637823.1:c.621T>G
ENST00000637888.1:c.198+10256T>G	ENSP00000490546.1:n.198+10256T>G
ENST00000638076.1:c.*399T>G	ENSP00000490373.1:n.*399T>G
ENST00000638144.1:n.439T>G
ENST00000646164.1:c.39-8599T>G
ENST00000249806.9:c.796T>G	ENSP00000249806.5:p.Phe266Val
ENST00000538696.5:c.892T>G	ENSP00000445770.1:p.Phe298Val
ENST00000562767.1:c.84-10652T>G	ENSP00000456336.1:n.84-10652T>G
ENST00000565471.5:c.337T>G	ENSP00000457384.1:p.Phe113Val
ENST00000566347.5:c.607T>G	ENSP00000457783.1:p.Phe203Val
ENST00000567060.5:c.*194T>G	ENSP00000454818.1:n.*194T>G
NM_017882.2:c.796T>G	NP_060352.1:p.Phe266Val
NM_017882.3:c.796T>G MANE Select	NP_060352.1:p.Phe266Val