Canonical Allele Identifier: CA490911596

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502010G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209672G>T , CM000677.2:g.68209672G>T	GRCh38
NC_000015.9:g.68502010G>T , CM000677.1:g.68502010G>T	GRCh37
NC_000015.8:g.66289064G>T	NCBI36
NG_008764.2:g.52540C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.630C>A MANE Select	ENSP00000249806.5:p.Ala210=
ENST00000562767.2:c.84-12044C>A	ENSP00000456336.1:n.84-12044C>A
ENST00000563917.2:n.472C>A
ENST00000565471.6:c.171C>A	ENSP00000457384.1:p.Ala57=
ENST00000635747.1:c.*533C>A	ENSP00000490627.1:n.*533C>A
ENST00000636212.1:c.*300C>A	ENSP00000489851.1:n.*300C>A
ENST00000636314.1:c.*14C>A	ENSP00000490295.1:n.*14C>A
ENST00000636674.1:n.1732C>A
ENST00000636964.1:n.2158C>A
ENST00000637054.1:c.198+8864C>A	ENSP00000490807.1:n.198+8864C>A
ENST00000637329.1:c.599C>A
ENST00000637450.1:c.*284C>A	ENSP00000490204.1:n.*284C>A
ENST00000637494.1:c.342C>A	ENSP00000490057.1:p.Ala114=
ENST00000637667.1:c.531C>A	ENSP00000489843.1:p.Ala177=
ENST00000637823.1:c.455C>A
ENST00000637888.1:c.198+8864C>A	ENSP00000490546.1:n.198+8864C>A
ENST00000638076.1:c.*233C>A	ENSP00000490373.1:n.*233C>A
ENST00000638144.1:n.273C>A
ENST00000646164.1:c.38+8864C>A
ENST00000249806.9:c.630C>A	ENSP00000249806.5:p.Ala210=
ENST00000538696.5:c.726C>A	ENSP00000445770.1:p.Ala242=
ENST00000562767.1:c.84-12044C>A	ENSP00000456336.1:n.84-12044C>A
ENST00000563917.1:n.530C>A
ENST00000564752.1:c.*14C>A	ENSP00000457822.1:n.*14C>A
ENST00000565471.5:c.171C>A	ENSP00000457384.1:p.Ala57=
ENST00000566347.5:c.441C>A	ENSP00000457783.1:p.Ala147=
ENST00000567060.5:c.*28C>A	ENSP00000454818.1:n.*28C>A
NM_017882.2:c.630C>A	NP_060352.1:p.Ala210=
XR_931861.1:n.852C>A
NM_017882.3:c.630C>A MANE Select	NP_060352.1:p.Ala210=