Canonical Allele Identifier: CA392973716

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504194T>G (hg19) ; chr15:g.68211856T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211856T>G , CM000677.2:g.68211856T>G	GRCh38
NC_000015.9:g.68504194T>G , CM000677.1:g.68504194T>G	GRCh37
NC_000015.8:g.66291248T>G	NCBI36
NG_008764.2:g.50356A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.305A>C MANE Select	ENSP00000249806.5:p.Glu102Ala
ENST00000562767.2:c.84-14228A>C	ENSP00000456336.1:n.84-14228A>C
ENST00000563917.2:n.147A>C
ENST00000565471.6:c.84-2097A>C	ENSP00000457384.1:n.84-2097A>C
ENST00000635747.1:c.*208A>C	ENSP00000490627.1:n.*208A>C
ENST00000636212.1:c.298-115A>C	ENSP00000489851.1:n.298-115A>C
ENST00000636314.1:c.183-538A>C	ENSP00000490295.1:n.183-538A>C
ENST00000636674.1:n.1288A>C
ENST00000636964.1:n.1477A>C
ENST00000637054.1:c.198+6680A>C	ENSP00000490807.1:n.198+6680A>C
ENST00000637223.1:c.*201-538A>C	ENSP00000490010.1:n.*201-538A>C
ENST00000637329.1:c.274A>C
ENST00000637450.1:c.190A>C	ENSP00000490204.1:p.Ser64Arg
ENST00000637494.1:c.199-538A>C	ENSP00000490057.1:n.199-538A>C
ENST00000637667.1:c.206A>C	ENSP00000489843.1:p.Glu69Ala
ENST00000637823.1:c.224-213A>C
ENST00000637888.1:c.198+6680A>C	ENSP00000490546.1:n.198+6680A>C
ENST00000638076.1:c.305A>C	ENSP00000490373.1:p.Glu102Ala
ENST00000638144.1:n.130-538A>C
ENST00000646164.1:c.38+6680A>C
ENST00000249806.9:c.305A>C	ENSP00000249806.5:p.Glu102Ala
ENST00000538696.5:c.401A>C	ENSP00000445770.1:p.Glu134Ala
ENST00000562767.1:c.84-14228A>C	ENSP00000456336.1:n.84-14228A>C
ENST00000563917.1:n.86A>C
ENST00000564752.1:c.305A>C	ENSP00000457822.1:p.Glu102Ala
ENST00000565471.5:c.84-2097A>C	ENSP00000457384.1:n.84-2097A>C
ENST00000566347.5:c.298-538A>C	ENSP00000457783.1:n.298-538A>C
ENST00000567060.5:c.298-2136A>C	ENSP00000454818.1:n.298-2136A>C
NM_017882.2:c.305A>C	NP_060352.1:p.Glu102Ala
XR_931861.1:n.408A>C
NM_017882.3:c.305A>C MANE Select	NP_060352.1:p.Glu102Ala