Canonical Allele Identifier: CA392972002

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500653A>C (hg19) ; chr15:g.68208315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208315A>C , CM000677.2:g.68208315A>C	GRCh38
NC_000015.9:g.68500653A>C , CM000677.1:g.68500653A>C	GRCh37
NC_000015.8:g.66287707A>C	NCBI36
NG_008764.2:g.53897T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.761T>G MANE Select	ENSP00000249806.5:p.Phe254Cys
ENST00000562767.2:c.84-10687T>G	ENSP00000456336.1:n.84-10687T>G
ENST00000565471.6:c.302T>G	ENSP00000457384.1:p.Phe101Cys
ENST00000635747.1:c.*664T>G	ENSP00000490627.1:n.*664T>G
ENST00000636212.1:c.*431T>G	ENSP00000489851.1:n.*431T>G
ENST00000636674.1:n.1863T>G
ENST00000636964.1:n.2289T>G
ENST00000637054.1:c.198+10221T>G	ENSP00000490807.1:n.198+10221T>G
ENST00000637329.1:c.730T>G
ENST00000637450.1:c.*415T>G	ENSP00000490204.1:n.*415T>G
ENST00000637494.1:c.473T>G	ENSP00000490057.1:p.Phe158Cys
ENST00000637667.1:c.662T>G	ENSP00000489843.1:p.Phe221Cys
ENST00000637823.1:c.586T>G
ENST00000637888.1:c.198+10221T>G	ENSP00000490546.1:n.198+10221T>G
ENST00000638076.1:c.*364T>G	ENSP00000490373.1:n.*364T>G
ENST00000638144.1:n.404T>G
ENST00000646164.1:c.39-8634T>G
ENST00000249806.9:c.761T>G	ENSP00000249806.5:p.Phe254Cys
ENST00000538696.5:c.857T>G	ENSP00000445770.1:p.Phe286Cys
ENST00000562767.1:c.84-10687T>G	ENSP00000456336.1:n.84-10687T>G
ENST00000565471.5:c.302T>G	ENSP00000457384.1:p.Phe101Cys
ENST00000566347.5:c.572T>G	ENSP00000457783.1:p.Phe191Cys
ENST00000567060.5:c.*159T>G	ENSP00000454818.1:n.*159T>G
NM_017882.2:c.761T>G	NP_060352.1:p.Phe254Cys
NM_017882.3:c.761T>G MANE Select	NP_060352.1:p.Phe254Cys