Canonical Allele Identifier: CA392972807

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501989A>T (hg19) ; chr15:g.68209651A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209651A>T , CM000677.2:g.68209651A>T	GRCh38
NC_000015.9:g.68501989A>T , CM000677.1:g.68501989A>T	GRCh37
NC_000015.8:g.66289043A>T	NCBI36
NG_008764.2:g.52561T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.651T>A MANE Select	ENSP00000249806.5:p.Ser217Arg
ENST00000562767.2:c.84-12023T>A	ENSP00000456336.1:n.84-12023T>A
ENST00000563917.2:n.493T>A
ENST00000565471.6:c.192T>A	ENSP00000457384.1:p.Ser64Arg
ENST00000635747.1:c.*554T>A	ENSP00000490627.1:n.*554T>A
ENST00000636212.1:c.*321T>A	ENSP00000489851.1:n.*321T>A
ENST00000636674.1:n.1753T>A
ENST00000636964.1:n.2179T>A
ENST00000637054.1:c.198+8885T>A	ENSP00000490807.1:n.198+8885T>A
ENST00000637329.1:c.620T>A
ENST00000637450.1:c.*305T>A	ENSP00000490204.1:n.*305T>A
ENST00000637494.1:c.363T>A	ENSP00000490057.1:p.Ser121Arg
ENST00000637667.1:c.552T>A	ENSP00000489843.1:p.Ser184Arg
ENST00000637823.1:c.476T>A
ENST00000637888.1:c.198+8885T>A	ENSP00000490546.1:n.198+8885T>A
ENST00000638076.1:c.*254T>A	ENSP00000490373.1:n.*254T>A
ENST00000638144.1:n.294T>A
ENST00000646164.1:c.38+8885T>A
ENST00000249806.9:c.651T>A	ENSP00000249806.5:p.Ser217Arg
ENST00000538696.5:c.747T>A	ENSP00000445770.1:p.Ser249Arg
ENST00000562767.1:c.84-12023T>A	ENSP00000456336.1:n.84-12023T>A
ENST00000563917.1:n.551T>A
ENST00000564752.1:c.*35T>A	ENSP00000457822.1:n.*35T>A
ENST00000565471.5:c.192T>A	ENSP00000457384.1:p.Ser64Arg
ENST00000566347.5:c.462T>A	ENSP00000457783.1:p.Ser154Arg
ENST00000567060.5:c.*49T>A	ENSP00000454818.1:n.*49T>A
NM_017882.2:c.651T>A	NP_060352.1:p.Ser217Arg
XR_931861.1:n.873T>A
NM_017882.3:c.651T>A MANE Select	NP_060352.1:p.Ser217Arg