Canonical Allele Identifier: CA491100030

Gene: CLN6

Linked Data

• dbSNP Id: rs2093194042
• MyVariant Identifiers: chr15:g.68500679G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208341G>A , CM000677.2:g.68208341G>A	GRCh38
NC_000015.9:g.68500679G>A , CM000677.1:g.68500679G>A	GRCh37
NC_000015.8:g.66287733G>A	NCBI36
NG_008764.2:g.53871C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.735C>T MANE Select	ENSP00000249806.5:p.Val245=
ENST00000562767.2:c.84-10713C>T	ENSP00000456336.1:n.84-10713C>T
ENST00000565471.6:c.276C>T	ENSP00000457384.1:p.Val92=
ENST00000635747.1:c.*638C>T	ENSP00000490627.1:n.*638C>T
ENST00000636212.1:c.*405C>T	ENSP00000489851.1:n.*405C>T
ENST00000636674.1:n.1837C>T
ENST00000636964.1:n.2263C>T
ENST00000637054.1:c.198+10195C>T	ENSP00000490807.1:n.198+10195C>T
ENST00000637329.1:c.704C>T
ENST00000637450.1:c.*389C>T	ENSP00000490204.1:n.*389C>T
ENST00000637494.1:c.447C>T	ENSP00000490057.1:p.Val149=
ENST00000637667.1:c.636C>T	ENSP00000489843.1:p.Val212=
ENST00000637823.1:c.560C>T
ENST00000637888.1:c.198+10195C>T	ENSP00000490546.1:n.198+10195C>T
ENST00000638076.1:c.*338C>T	ENSP00000490373.1:n.*338C>T
ENST00000638144.1:n.378C>T
ENST00000646164.1:c.39-8660C>T
ENST00000249806.9:c.735C>T	ENSP00000249806.5:p.Val245=
ENST00000538696.5:c.831C>T	ENSP00000445770.1:p.Val277=
ENST00000562767.1:c.84-10713C>T	ENSP00000456336.1:n.84-10713C>T
ENST00000564752.1:c.*119C>T	ENSP00000457822.1:n.*119C>T
ENST00000565471.5:c.276C>T	ENSP00000457384.1:p.Val92=
ENST00000566347.5:c.546C>T	ENSP00000457783.1:p.Val182=
ENST00000567060.5:c.*133C>T	ENSP00000454818.1:n.*133C>T
NM_017882.2:c.735C>T	NP_060352.1:p.Val245=
NM_017882.3:c.735C>T MANE Select	NP_060352.1:p.Val245=