Canonical Allele Identifier: CA392972337

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500733C>A (hg19) ; chr15:g.68208395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208395C>A , CM000677.2:g.68208395C>A	GRCh38
NC_000015.9:g.68500733C>A , CM000677.1:g.68500733C>A	GRCh37
NC_000015.8:g.66287787C>A	NCBI36
NG_008764.2:g.53817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.681G>T MANE Select	ENSP00000249806.5:p.Glu227Asp
ENST00000562767.2:c.84-10767G>T	ENSP00000456336.1:n.84-10767G>T
ENST00000563917.2:n.523G>T
ENST00000565471.6:c.222G>T	ENSP00000457384.1:p.Glu74Asp
ENST00000635747.1:c.*584G>T	ENSP00000490627.1:n.*584G>T
ENST00000636212.1:c.*351G>T	ENSP00000489851.1:n.*351G>T
ENST00000636674.1:n.1783G>T
ENST00000636964.1:n.2209G>T
ENST00000637054.1:c.198+10141G>T	ENSP00000490807.1:n.198+10141G>T
ENST00000637329.1:c.650G>T
ENST00000637450.1:c.*335G>T	ENSP00000490204.1:n.*335G>T
ENST00000637494.1:c.393G>T	ENSP00000490057.1:p.Glu131Asp
ENST00000637667.1:c.582G>T	ENSP00000489843.1:p.Glu194Asp
ENST00000637823.1:c.506G>T
ENST00000637888.1:c.198+10141G>T	ENSP00000490546.1:n.198+10141G>T
ENST00000638076.1:c.*284G>T	ENSP00000490373.1:n.*284G>T
ENST00000638144.1:n.324G>T
ENST00000646164.1:c.39-8714G>T
ENST00000249806.9:c.681G>T	ENSP00000249806.5:p.Glu227Asp
ENST00000538696.5:c.777G>T	ENSP00000445770.1:p.Glu259Asp
ENST00000562767.1:c.84-10767G>T	ENSP00000456336.1:n.84-10767G>T
ENST00000564752.1:c.*65G>T	ENSP00000457822.1:n.*65G>T
ENST00000565471.5:c.222G>T	ENSP00000457384.1:p.Glu74Asp
ENST00000566347.5:c.492G>T	ENSP00000457783.1:p.Glu164Asp
ENST00000567060.5:c.*79G>T	ENSP00000454818.1:n.*79G>T
NM_017882.2:c.681G>T	NP_060352.1:p.Glu227Asp
NM_017882.3:c.681G>T MANE Select	NP_060352.1:p.Glu227Asp