Canonical Allele Identifier: CA392972080

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500675G>T (hg19) ; chr15:g.68208337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208337G>T , CM000677.2:g.68208337G>T	GRCh38
NC_000015.9:g.68500675G>T , CM000677.1:g.68500675G>T	GRCh37
NC_000015.8:g.66287729G>T	NCBI36
NG_008764.2:g.53875C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.739C>A MANE Select	ENSP00000249806.5:p.His247Asn
ENST00000562767.2:c.84-10709C>A	ENSP00000456336.1:n.84-10709C>A
ENST00000565471.6:c.280C>A	ENSP00000457384.1:p.His94Asn
ENST00000635747.1:c.*642C>A	ENSP00000490627.1:n.*642C>A
ENST00000636212.1:c.*409C>A	ENSP00000489851.1:n.*409C>A
ENST00000636674.1:n.1841C>A
ENST00000636964.1:n.2267C>A
ENST00000637054.1:c.198+10199C>A	ENSP00000490807.1:n.198+10199C>A
ENST00000637329.1:c.708C>A
ENST00000637450.1:c.*393C>A	ENSP00000490204.1:n.*393C>A
ENST00000637494.1:c.451C>A	ENSP00000490057.1:p.His151Asn
ENST00000637667.1:c.640C>A	ENSP00000489843.1:p.His214Asn
ENST00000637823.1:c.564C>A
ENST00000637888.1:c.198+10199C>A	ENSP00000490546.1:n.198+10199C>A
ENST00000638076.1:c.*342C>A	ENSP00000490373.1:n.*342C>A
ENST00000638144.1:n.382C>A
ENST00000646164.1:c.39-8656C>A
ENST00000249806.9:c.739C>A	ENSP00000249806.5:p.His247Asn
ENST00000538696.5:c.835C>A	ENSP00000445770.1:p.His279Asn
ENST00000562767.1:c.84-10709C>A	ENSP00000456336.1:n.84-10709C>A
ENST00000564752.1:c.*123C>A	ENSP00000457822.1:n.*123C>A
ENST00000565471.5:c.280C>A	ENSP00000457384.1:p.His94Asn
ENST00000566347.5:c.550C>A	ENSP00000457783.1:p.His184Asn
ENST00000567060.5:c.*137C>A	ENSP00000454818.1:n.*137C>A
NM_017882.2:c.739C>A	NP_060352.1:p.His247Asn
NM_017882.3:c.739C>A MANE Select	NP_060352.1:p.His247Asn