Canonical Allele Identifier: CA392973176

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211295G>T , CM000677.2:g.68211295G>T	GRCh38
NC_000015.9:g.68503633G>T , CM000677.1:g.68503633G>T	GRCh37
NC_000015.8:g.66290687G>T	NCBI36
NG_008764.2:g.50917C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.510C>A MANE Select	NP_060352.1:p.Tyr170Ter
ENST00000249806.11:c.510C>A MANE Select	ENSP00000249806.5:p.Tyr170Ter
NM_017882.2:c.510C>A	NP_060352.1:p.Tyr170Ter
ENST00000249806.9:c.510C>A	ENSP00000249806.5:p.Tyr170Ter
ENST00000538696.5:c.606C>A	ENSP00000445770.1:p.Tyr202Ter
ENST00000562767.1:c.84-13667C>A	ENSP00000456336.1:n.84-13667C>A
ENST00000562767.2:c.84-13667C>A	ENSP00000456336.1:n.84-13667C>A
ENST00000563917.1:n.410C>A
ENST00000563917.2:n.352C>A
ENST00000564752.1:c.536C>A	ENSP00000457822.1:p.Thr179Asn
ENST00000565471.5:c.84-1536C>A	ENSP00000457384.1:n.84-1536C>A
ENST00000565471.6:c.84-1536C>A	ENSP00000457384.1:n.84-1536C>A
ENST00000566347.5:c.321C>A	ENSP00000457783.1:p.Tyr107Ter
ENST00000567060.5:c.298-1575C>A	ENSP00000454818.1:n.298-1575C>A
ENST00000635747.1:c.*413C>A	ENSP00000490627.1:n.*413C>A
ENST00000636212.1:c.*180C>A	ENSP00000489851.1:n.*180C>A
ENST00000636314.1:c.206C>A	ENSP00000490295.1:p.Thr69Asn
ENST00000636674.1:n.1612C>A
ENST00000636964.1:n.2038C>A
ENST00000637054.1:c.198+7241C>A	ENSP00000490807.1:n.198+7241C>A
ENST00000637223.1:c.*224C>A	ENSP00000490010.1:n.*224C>A
ENST00000637329.1:c.479C>A
ENST00000637450.1:c.*164C>A	ENSP00000490204.1:n.*164C>A
ENST00000637494.1:c.222C>A	ENSP00000490057.1:p.Tyr74Ter
ENST00000637667.1:c.411C>A	ENSP00000489843.1:p.Tyr137Ter
ENST00000637823.1:c.335C>A
ENST00000637888.1:c.198+7241C>A	ENSP00000490546.1:n.198+7241C>A
ENST00000638076.1:c.*113C>A	ENSP00000490373.1:n.*113C>A
ENST00000638144.1:n.153C>A
ENST00000646164.1:c.38+7241C>A
XR_931861.1:n.732C>A