Canonical Allele Identifier: CA392973488

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504099T>C (hg19) ; chr15:g.68211761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211761T>C , CM000677.2:g.68211761T>C	GRCh38
NC_000015.9:g.68504099T>C , CM000677.1:g.68504099T>C	GRCh37
NC_000015.8:g.66291153T>C	NCBI36
NG_008764.2:g.50451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.400A>G MANE Select	ENSP00000249806.5:p.Asn134Asp
ENST00000562767.2:c.84-14133A>G	ENSP00000456336.1:n.84-14133A>G
ENST00000563917.2:n.242A>G
ENST00000565471.6:c.84-2002A>G	ENSP00000457384.1:n.84-2002A>G
ENST00000635747.1:c.*303A>G	ENSP00000490627.1:n.*303A>G
ENST00000636212.1:c.298-20A>G	ENSP00000489851.1:n.298-20A>G
ENST00000636314.1:c.183-443A>G	ENSP00000490295.1:n.183-443A>G
ENST00000636674.1:n.1383A>G
ENST00000636964.1:n.1572A>G
ENST00000637054.1:c.198+6775A>G	ENSP00000490807.1:n.198+6775A>G
ENST00000637223.1:c.*201-443A>G	ENSP00000490010.1:n.*201-443A>G
ENST00000637329.1:c.369A>G
ENST00000637450.1:c.*54A>G	ENSP00000490204.1:n.*54A>G
ENST00000637494.1:c.199-443A>G	ENSP00000490057.1:n.199-443A>G
ENST00000637667.1:c.301A>G	ENSP00000489843.1:p.Asn101Asp
ENST00000637823.1:c.224-118A>G
ENST00000637888.1:c.198+6775A>G	ENSP00000490546.1:n.198+6775A>G
ENST00000638076.1:c.400A>G	ENSP00000490373.1:p.Asn134Asp
ENST00000638144.1:n.130-443A>G
ENST00000646164.1:c.38+6775A>G
ENST00000249806.9:c.400A>G	ENSP00000249806.5:p.Asn134Asp
ENST00000538696.5:c.496A>G	ENSP00000445770.1:p.Asn166Asp
ENST00000562767.1:c.84-14133A>G	ENSP00000456336.1:n.84-14133A>G
ENST00000563917.1:n.181A>G
ENST00000564752.1:c.400A>G	ENSP00000457822.1:p.Asn134Asp
ENST00000565471.5:c.84-2002A>G	ENSP00000457384.1:n.84-2002A>G
ENST00000566347.5:c.298-443A>G	ENSP00000457783.1:n.298-443A>G
ENST00000567060.5:c.298-2041A>G	ENSP00000454818.1:n.298-2041A>G
NM_017882.2:c.400A>G	NP_060352.1:p.Asn134Asp
XR_931861.1:n.503A>G
NM_017882.3:c.400A>G MANE Select	NP_060352.1:p.Asn134Asp