Canonical Allele Identifier: CA392971490

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500487A>T (hg19) ; chr15:g.68208149A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208149A>T , CM000677.2:g.68208149A>T	GRCh38
NC_000015.9:g.68500487A>T , CM000677.1:g.68500487A>T	GRCh37
NC_000015.8:g.66287541A>T	NCBI36
NG_008764.2:g.54063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.927T>A MANE Select	ENSP00000249806.5:p.Ser309Arg
ENST00000562767.2:c.84-10521T>A	ENSP00000456336.1:n.84-10521T>A
ENST00000565471.6:c.468T>A	ENSP00000457384.1:p.Ser156Arg
ENST00000635747.1:c.*830T>A	ENSP00000490627.1:n.*830T>A
ENST00000636212.1:c.*597T>A	ENSP00000489851.1:n.*597T>A
ENST00000636964.1:n.2455T>A
ENST00000637054.1:c.198+10387T>A	ENSP00000490807.1:n.198+10387T>A
ENST00000637329.1:c.896T>A
ENST00000637494.1:c.639T>A	ENSP00000490057.1:p.Ser213Arg
ENST00000637888.1:c.198+10387T>A	ENSP00000490546.1:n.198+10387T>A
ENST00000638076.1:c.*530T>A	ENSP00000490373.1:n.*530T>A
ENST00000638144.1:n.570T>A
ENST00000646164.1:c.39-8468T>A
ENST00000249806.9:c.927T>A	ENSP00000249806.5:p.Ser309Arg
ENST00000538696.5:c.1023T>A	ENSP00000445770.1:p.Ser341Arg
ENST00000562767.1:c.84-10521T>A	ENSP00000456336.1:n.84-10521T>A
ENST00000565471.5:c.468T>A	ENSP00000457384.1:p.Ser156Arg
ENST00000566347.5:c.738T>A	ENSP00000457783.1:p.Ser246Arg
ENST00000567060.5:c.*325T>A	ENSP00000454818.1:n.*325T>A
NM_017882.2:c.927T>A	NP_060352.1:p.Ser309Arg
NM_017882.3:c.927T>A MANE Select	NP_060352.1:p.Ser309Arg