Canonical Allele Identifier: CA392974415

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68506676G>C (hg19) ; chr15:g.68214338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214338G>C , CM000677.2:g.68214338G>C	GRCh38
NC_000015.9:g.68506676G>C , CM000677.1:g.68506676G>C	GRCh37
NC_000015.8:g.66293730G>C	NCBI36
NG_008764.2:g.47874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.249C>G MANE Select	ENSP00000249806.5:p.Asp83Glu
ENST00000562767.2:c.83+15164C>G	ENSP00000456336.1:n.83+15164C>G
ENST00000563917.2:n.91C>G
ENST00000565471.6:c.84-4579C>G	ENSP00000457384.1:n.84-4579C>G
ENST00000635747.1:c.*152C>G	ENSP00000490627.1:n.*152C>G
ENST00000635754.1:n.1271C>G
ENST00000636020.1:n.381C>G
ENST00000636212.1:c.249C>G	ENSP00000489851.1:p.Asp83Glu
ENST00000636314.1:c.134C>G	ENSP00000490295.1:p.Thr45Ser
ENST00000637054.1:c.198+4198C>G	ENSP00000490807.1:n.198+4198C>G
ENST00000637223.1:c.*152C>G	ENSP00000490010.1:n.*152C>G
ENST00000637329.1:c.160C>G
ENST00000637450.1:c.134C>G	ENSP00000490204.1:p.Thr45Ser
ENST00000637494.1:c.199-3020C>G	ENSP00000490057.1:n.199-3020C>G
ENST00000637667.1:c.199-2475C>G	ENSP00000489843.1:n.199-2475C>G
ENST00000637823.1:c.175C>G
ENST00000637888.1:c.198+4198C>G	ENSP00000490546.1:n.198+4198C>G
ENST00000638076.1:c.249C>G	ENSP00000490373.1:p.Asp83Glu
ENST00000638144.1:n.81C>G
ENST00000646164.1:c.38+4198C>G
ENST00000249806.9:c.249C>G	ENSP00000249806.5:p.Asp83Glu
ENST00000538696.5:c.345C>G	ENSP00000445770.1:p.Asp115Glu
ENST00000562767.1:c.83+15164C>G	ENSP00000456336.1:n.83+15164C>G
ENST00000563917.1:n.30C>G
ENST00000564752.1:c.249C>G	ENSP00000457822.1:p.Asp83Glu
ENST00000564846.1:n.681C>G
ENST00000565471.5:c.84-4579C>G	ENSP00000457384.1:n.84-4579C>G
ENST00000566347.5:c.249C>G	ENSP00000457783.1:p.Asp83Glu
ENST00000567060.5:c.249C>G	ENSP00000454818.1:p.Asp83Glu
NM_017882.2:c.249C>G	NP_060352.1:p.Asp83Glu
XR_931861.1:n.352C>G
NM_017882.3:c.249C>G MANE Select	NP_060352.1:p.Asp83Glu