Canonical Allele Identifier: CA392974477

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214368C>T , CM000677.2:g.68214368C>T	GRCh38
NC_000015.9:g.68506706C>T , CM000677.1:g.68506706C>T	GRCh37
NC_000015.8:g.66293760C>T	NCBI36
NG_008764.2:g.47844G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.219G>A MANE Select	NP_060352.1:p.Trp73Ter
ENST00000249806.11:c.219G>A MANE Select	ENSP00000249806.5:p.Trp73Ter
NM_017882.2:c.219G>A	NP_060352.1:p.Trp73Ter
ENST00000249806.9:c.219G>A	ENSP00000249806.5:p.Trp73Ter
ENST00000538696.5:c.315G>A	ENSP00000445770.1:p.Trp105Ter
ENST00000562767.1:c.83+15134G>A	ENSP00000456336.1:n.83+15134G>A
ENST00000562767.2:c.83+15134G>A	ENSP00000456336.1:n.83+15134G>A
ENST00000563917.2:n.61G>A
ENST00000564752.1:c.219G>A	ENSP00000457822.1:p.Trp73Ter
ENST00000564846.1:n.651G>A
ENST00000565471.5:c.84-4609G>A	ENSP00000457384.1:n.84-4609G>A
ENST00000565471.6:c.84-4609G>A	ENSP00000457384.1:n.84-4609G>A
ENST00000566347.5:c.219G>A	ENSP00000457783.1:p.Trp73Ter
ENST00000567060.5:c.219G>A	ENSP00000454818.1:p.Trp73Ter
ENST00000635747.1:c.*122G>A	ENSP00000490627.1:n.*122G>A
ENST00000635754.1:n.1241G>A
ENST00000636020.1:n.351G>A
ENST00000636212.1:c.219G>A	ENSP00000489851.1:p.Trp73Ter
ENST00000636314.1:c.104G>A	ENSP00000490295.1:p.Gly35Asp
ENST00000637054.1:c.198+4168G>A	ENSP00000490807.1:n.198+4168G>A
ENST00000637223.1:c.*122G>A	ENSP00000490010.1:n.*122G>A
ENST00000637329.1:c.130G>A
ENST00000637450.1:c.104G>A	ENSP00000490204.1:p.Gly35Asp
ENST00000637494.1:c.199-3050G>A	ENSP00000490057.1:n.199-3050G>A
ENST00000637667.1:c.199-2505G>A	ENSP00000489843.1:n.199-2505G>A
ENST00000637823.1:c.145G>A
ENST00000637888.1:c.198+4168G>A	ENSP00000490546.1:n.198+4168G>A
ENST00000638076.1:c.219G>A	ENSP00000490373.1:p.Trp73Ter
ENST00000638144.1:n.51G>A
ENST00000646164.1:c.38+4168G>A
XR_931861.1:n.322G>A