Canonical Allele Identifier: CA392973084

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211263C>T , CM000677.2:g.68211263C>T	GRCh38
NC_000015.9:g.68503601C>T , CM000677.1:g.68503601C>T	GRCh37
NC_000015.8:g.66290655C>T	NCBI36
NG_008764.2:g.50949G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.542G>A MANE Select	NP_060352.1:p.Trp181Ter
ENST00000249806.11:c.542G>A MANE Select	ENSP00000249806.5:p.Trp181Ter
NM_017882.2:c.542G>A	NP_060352.1:p.Trp181Ter
ENST00000249806.9:c.542G>A	ENSP00000249806.5:p.Trp181Ter
ENST00000538696.5:c.638G>A	ENSP00000445770.1:p.Trp213Ter
ENST00000562767.1:c.84-13635G>A	ENSP00000456336.1:n.84-13635G>A
ENST00000562767.2:c.84-13635G>A	ENSP00000456336.1:n.84-13635G>A
ENST00000563917.1:n.442G>A
ENST00000563917.2:n.384G>A
ENST00000564752.1:c.568G>A	ENSP00000457822.1:p.Gly190Ser
ENST00000565471.5:c.84-1504G>A	ENSP00000457384.1:n.84-1504G>A
ENST00000565471.6:c.84-1504G>A	ENSP00000457384.1:n.84-1504G>A
ENST00000566347.5:c.353G>A	ENSP00000457783.1:p.Trp118Ter
ENST00000567060.5:c.298-1543G>A	ENSP00000454818.1:n.298-1543G>A
ENST00000635747.1:c.*445G>A	ENSP00000490627.1:n.*445G>A
ENST00000636212.1:c.*212G>A	ENSP00000489851.1:n.*212G>A
ENST00000636314.1:c.238G>A	ENSP00000490295.1:p.Gly80Ser
ENST00000636674.1:n.1644G>A
ENST00000636964.1:n.2070G>A
ENST00000637054.1:c.198+7273G>A	ENSP00000490807.1:n.198+7273G>A
ENST00000637223.1:c.*256G>A	ENSP00000490010.1:n.*256G>A
ENST00000637329.1:c.511G>A
ENST00000637450.1:c.*196G>A	ENSP00000490204.1:n.*196G>A
ENST00000637494.1:c.254G>A	ENSP00000490057.1:p.Trp85Ter
ENST00000637667.1:c.443G>A	ENSP00000489843.1:p.Trp148Ter
ENST00000637823.1:c.367G>A
ENST00000637888.1:c.198+7273G>A	ENSP00000490546.1:n.198+7273G>A
ENST00000638076.1:c.*145G>A	ENSP00000490373.1:n.*145G>A
ENST00000638144.1:n.185G>A
ENST00000646164.1:c.38+7273G>A
XR_931861.1:n.764G>A