Canonical Allele Identifier: CA392973400

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504060A>T (hg19) ; chr15:g.68211722A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211722A>T , CM000677.2:g.68211722A>T	GRCh38
NC_000015.9:g.68504060A>T , CM000677.1:g.68504060A>T	GRCh37
NC_000015.8:g.66291114A>T	NCBI36
NG_008764.2:g.50490T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.439T>A MANE Select	ENSP00000249806.5:p.Ser147Thr
ENST00000562767.2:c.84-14094T>A	ENSP00000456336.1:n.84-14094T>A
ENST00000563917.2:n.281T>A
ENST00000565471.6:c.84-1963T>A	ENSP00000457384.1:n.84-1963T>A
ENST00000635747.1:c.*342T>A	ENSP00000490627.1:n.*342T>A
ENST00000636212.1:c.317T>A	ENSP00000489851.1:p.Val106Asp
ENST00000636314.1:c.183-404T>A	ENSP00000490295.1:n.183-404T>A
ENST00000636674.1:n.1422T>A
ENST00000636964.1:n.1611T>A
ENST00000637054.1:c.198+6814T>A	ENSP00000490807.1:n.198+6814T>A
ENST00000637223.1:c.*201-404T>A	ENSP00000490010.1:n.*201-404T>A
ENST00000637329.1:c.408T>A
ENST00000637450.1:c.*93T>A	ENSP00000490204.1:n.*93T>A
ENST00000637494.1:c.199-404T>A	ENSP00000490057.1:n.199-404T>A
ENST00000637667.1:c.340T>A	ENSP00000489843.1:p.Ser114Thr
ENST00000637823.1:c.224-79T>A
ENST00000637888.1:c.198+6814T>A	ENSP00000490546.1:n.198+6814T>A
ENST00000638076.1:c.439T>A	ENSP00000490373.1:p.Ser147Thr
ENST00000638144.1:n.130-404T>A
ENST00000646164.1:c.38+6814T>A
ENST00000249806.9:c.439T>A	ENSP00000249806.5:p.Ser147Thr
ENST00000538696.5:c.535T>A	ENSP00000445770.1:p.Ser179Thr
ENST00000562767.1:c.84-14094T>A	ENSP00000456336.1:n.84-14094T>A
ENST00000563917.1:n.220T>A
ENST00000564752.1:c.439T>A	ENSP00000457822.1:p.Ser147Thr
ENST00000565471.5:c.84-1963T>A	ENSP00000457384.1:n.84-1963T>A
ENST00000566347.5:c.298-404T>A	ENSP00000457783.1:n.298-404T>A
ENST00000567060.5:c.298-2002T>A	ENSP00000454818.1:n.298-2002T>A
NM_017882.2:c.439T>A	NP_060352.1:p.Ser147Thr
XR_931861.1:n.542T>A
NM_017882.3:c.439T>A MANE Select	NP_060352.1:p.Ser147Thr