Canonical Allele Identifier: CA392971568

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500510A>C (hg19) ; chr15:g.68208172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208172A>C , CM000677.2:g.68208172A>C	GRCh38
NC_000015.9:g.68500510A>C , CM000677.1:g.68500510A>C	GRCh37
NC_000015.8:g.66287564A>C	NCBI36
NG_008764.2:g.54040T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.904T>G MANE Select	ENSP00000249806.5:p.Phe302Val
ENST00000562767.2:c.84-10544T>G	ENSP00000456336.1:n.84-10544T>G
ENST00000565471.6:c.445T>G	ENSP00000457384.1:p.Phe149Val
ENST00000635747.1:c.*807T>G	ENSP00000490627.1:n.*807T>G
ENST00000636212.1:c.*574T>G	ENSP00000489851.1:n.*574T>G
ENST00000636964.1:n.2432T>G
ENST00000637054.1:c.198+10364T>G	ENSP00000490807.1:n.198+10364T>G
ENST00000637329.1:c.873T>G
ENST00000637494.1:c.616T>G	ENSP00000490057.1:p.Phe206Val
ENST00000637888.1:c.198+10364T>G	ENSP00000490546.1:n.198+10364T>G
ENST00000638076.1:c.*507T>G	ENSP00000490373.1:n.*507T>G
ENST00000638144.1:n.547T>G
ENST00000646164.1:c.39-8491T>G
ENST00000249806.9:c.904T>G	ENSP00000249806.5:p.Phe302Val
ENST00000538696.5:c.1000T>G	ENSP00000445770.1:p.Phe334Val
ENST00000562767.1:c.84-10544T>G	ENSP00000456336.1:n.84-10544T>G
ENST00000565471.5:c.445T>G	ENSP00000457384.1:p.Phe149Val
ENST00000566347.5:c.715T>G	ENSP00000457783.1:p.Phe239Val
ENST00000567060.5:c.*302T>G	ENSP00000454818.1:n.*302T>G
NM_017882.2:c.904T>G	NP_060352.1:p.Phe302Val
NM_017882.3:c.904T>G MANE Select	NP_060352.1:p.Phe302Val