Canonical Allele Identifier: CA392972079

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208337-G-A
• MyVariant Identifiers: chr15:g.68500675G>A (hg19) ; chr15:g.68208337G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.739C>T MANE Select	ENSP00000249806.5:p.His247Tyr
ENST00000562767.2:c.84-10709C>T	ENSP00000456336.1:n.84-10709C>T
ENST00000565471.6:c.280C>T	ENSP00000457384.1:p.His94Tyr
ENST00000635747.1:c.*642C>T	ENSP00000490627.1:n.*642C>T
ENST00000636212.1:c.*409C>T	ENSP00000489851.1:n.*409C>T
ENST00000636674.1:n.1841C>T
ENST00000636964.1:n.2267C>T
ENST00000637054.1:c.198+10199C>T	ENSP00000490807.1:n.198+10199C>T
ENST00000637329.1:c.708C>T
ENST00000637450.1:c.*393C>T	ENSP00000490204.1:n.*393C>T
ENST00000637494.1:c.451C>T	ENSP00000490057.1:p.His151Tyr
ENST00000637667.1:c.640C>T	ENSP00000489843.1:p.His214Tyr
ENST00000637823.1:c.564C>T
ENST00000637888.1:c.198+10199C>T	ENSP00000490546.1:n.198+10199C>T
ENST00000638076.1:c.*342C>T	ENSP00000490373.1:n.*342C>T
ENST00000638144.1:n.382C>T
ENST00000646164.1:c.39-8656C>T
ENST00000249806.9:c.739C>T	ENSP00000249806.5:p.His247Tyr
ENST00000538696.5:c.835C>T	ENSP00000445770.1:p.His279Tyr
ENST00000562767.1:c.84-10709C>T	ENSP00000456336.1:n.84-10709C>T
ENST00000564752.1:c.*123C>T	ENSP00000457822.1:n.*123C>T
ENST00000565471.5:c.280C>T	ENSP00000457384.1:p.His94Tyr
ENST00000566347.5:c.550C>T	ENSP00000457783.1:p.His184Tyr
ENST00000567060.5:c.*137C>T	ENSP00000454818.1:n.*137C>T
NM_017882.2:c.739C>T	NP_060352.1:p.His247Tyr
NM_017882.3:c.739C>T MANE Select	NP_060352.1:p.His247Tyr