Canonical Allele Identifier: CA392974336

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68506641A>T (hg19) ; chr15:g.68214303A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214303A>T , CM000677.2:g.68214303A>T	GRCh38
NC_000015.9:g.68506641A>T , CM000677.1:g.68506641A>T	GRCh37
NC_000015.8:g.66293695A>T	NCBI36
NG_008764.2:g.47909T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.284T>A MANE Select	ENSP00000249806.5:p.Phe95Tyr
ENST00000562767.2:c.83+15199T>A	ENSP00000456336.1:n.83+15199T>A
ENST00000563917.2:n.126T>A
ENST00000565471.6:c.84-4544T>A	ENSP00000457384.1:n.84-4544T>A
ENST00000635747.1:c.*187T>A	ENSP00000490627.1:n.*187T>A
ENST00000635754.1:n.1306T>A
ENST00000636020.1:n.416T>A
ENST00000636212.1:c.284T>A	ENSP00000489851.1:p.Phe95Tyr
ENST00000636314.1:c.169T>A	ENSP00000490295.1:p.Phe57Ile
ENST00000637054.1:c.198+4233T>A	ENSP00000490807.1:n.198+4233T>A
ENST00000637223.1:c.*187T>A	ENSP00000490010.1:n.*187T>A
ENST00000637329.1:c.195T>A
ENST00000637450.1:c.169T>A	ENSP00000490204.1:p.Phe57Ile
ENST00000637494.1:c.199-2985T>A	ENSP00000490057.1:n.199-2985T>A
ENST00000637667.1:c.199-2440T>A	ENSP00000489843.1:n.199-2440T>A
ENST00000637823.1:c.210T>A
ENST00000637888.1:c.198+4233T>A	ENSP00000490546.1:n.198+4233T>A
ENST00000638076.1:c.284T>A	ENSP00000490373.1:p.Phe95Tyr
ENST00000638144.1:n.116T>A
ENST00000646164.1:c.38+4233T>A
ENST00000249806.9:c.284T>A	ENSP00000249806.5:p.Phe95Tyr
ENST00000538696.5:c.380T>A	ENSP00000445770.1:p.Phe127Tyr
ENST00000562767.1:c.83+15199T>A	ENSP00000456336.1:n.83+15199T>A
ENST00000563917.1:n.65T>A
ENST00000564752.1:c.284T>A	ENSP00000457822.1:p.Phe95Tyr
ENST00000564846.1:n.716T>A
ENST00000565471.5:c.84-4544T>A	ENSP00000457384.1:n.84-4544T>A
ENST00000566347.5:c.284T>A	ENSP00000457783.1:p.Phe95Tyr
ENST00000567060.5:c.284T>A	ENSP00000454818.1:p.Phe95Tyr
NM_017882.2:c.284T>A	NP_060352.1:p.Phe95Tyr
XR_931861.1:n.387T>A
NM_017882.3:c.284T>A MANE Select	NP_060352.1:p.Phe95Tyr