Canonical Allele Identifier: CA491099945

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500613T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208275T>A , CM000677.2:g.68208275T>A	GRCh38
NC_000015.9:g.68500613T>A , CM000677.1:g.68500613T>A	GRCh37
NC_000015.8:g.66287667T>A	NCBI36
NG_008764.2:g.53937A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.801A>T MANE Select	ENSP00000249806.5:p.Ala267=
ENST00000562767.2:c.84-10647A>T	ENSP00000456336.1:n.84-10647A>T
ENST00000565471.6:c.342A>T	ENSP00000457384.1:p.Ala114=
ENST00000635747.1:c.*704A>T	ENSP00000490627.1:n.*704A>T
ENST00000636212.1:c.*471A>T	ENSP00000489851.1:n.*471A>T
ENST00000636674.1:n.1903A>T
ENST00000636964.1:n.2329A>T
ENST00000637054.1:c.198+10261A>T	ENSP00000490807.1:n.198+10261A>T
ENST00000637329.1:c.770A>T
ENST00000637450.1:c.*455A>T	ENSP00000490204.1:n.*455A>T
ENST00000637494.1:c.513A>T	ENSP00000490057.1:p.Ala171=
ENST00000637667.1:c.702A>T	ENSP00000489843.1:p.Ala234=
ENST00000637823.1:c.626A>T
ENST00000637888.1:c.198+10261A>T	ENSP00000490546.1:n.198+10261A>T
ENST00000638076.1:c.*404A>T	ENSP00000490373.1:n.*404A>T
ENST00000638144.1:n.444A>T
ENST00000646164.1:c.39-8594A>T
ENST00000249806.9:c.801A>T	ENSP00000249806.5:p.Ala267=
ENST00000538696.5:c.897A>T	ENSP00000445770.1:p.Ala299=
ENST00000562767.1:c.84-10647A>T	ENSP00000456336.1:n.84-10647A>T
ENST00000565471.5:c.342A>T	ENSP00000457384.1:p.Ala114=
ENST00000566347.5:c.612A>T	ENSP00000457783.1:p.Ala204=
ENST00000567060.5:c.*199A>T	ENSP00000454818.1:n.*199A>T
NM_017882.2:c.801A>T	NP_060352.1:p.Ala267=
NM_017882.3:c.801A>T MANE Select	NP_060352.1:p.Ala267=