Canonical Allele Identifier: CA392971948

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500627A>C (hg19) ; chr15:g.68208289A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208289A>C , CM000677.2:g.68208289A>C	GRCh38
NC_000015.9:g.68500627A>C , CM000677.1:g.68500627A>C	GRCh37
NC_000015.8:g.66287681A>C	NCBI36
NG_008764.2:g.53923T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.787T>G MANE Select	ENSP00000249806.5:p.Phe263Val
ENST00000562767.2:c.84-10661T>G	ENSP00000456336.1:n.84-10661T>G
ENST00000565471.6:c.328T>G	ENSP00000457384.1:p.Phe110Val
ENST00000635747.1:c.*690T>G	ENSP00000490627.1:n.*690T>G
ENST00000636212.1:c.*457T>G	ENSP00000489851.1:n.*457T>G
ENST00000636674.1:n.1889T>G
ENST00000636964.1:n.2315T>G
ENST00000637054.1:c.198+10247T>G	ENSP00000490807.1:n.198+10247T>G
ENST00000637329.1:c.756T>G
ENST00000637450.1:c.*441T>G	ENSP00000490204.1:n.*441T>G
ENST00000637494.1:c.499T>G	ENSP00000490057.1:p.Phe167Val
ENST00000637667.1:c.688T>G	ENSP00000489843.1:p.Phe230Val
ENST00000637823.1:c.612T>G
ENST00000637888.1:c.198+10247T>G	ENSP00000490546.1:n.198+10247T>G
ENST00000638076.1:c.*390T>G	ENSP00000490373.1:n.*390T>G
ENST00000638144.1:n.430T>G
ENST00000646164.1:c.39-8608T>G
ENST00000249806.9:c.787T>G	ENSP00000249806.5:p.Phe263Val
ENST00000538696.5:c.883T>G	ENSP00000445770.1:p.Phe295Val
ENST00000562767.1:c.84-10661T>G	ENSP00000456336.1:n.84-10661T>G
ENST00000565471.5:c.328T>G	ENSP00000457384.1:p.Phe110Val
ENST00000566347.5:c.598T>G	ENSP00000457783.1:p.Phe200Val
ENST00000567060.5:c.*185T>G	ENSP00000454818.1:n.*185T>G
NM_017882.2:c.787T>G	NP_060352.1:p.Phe263Val
NM_017882.3:c.787T>G MANE Select	NP_060352.1:p.Phe263Val