Canonical Allele Identifier: CA7630670

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214393G>A , CM000677.2:g.68214393G>A	GRCh38
NC_000015.9:g.68506731G>A , CM000677.1:g.68506731G>A	GRCh37
NC_000015.8:g.66293785G>A	NCBI36
NG_008764.2:g.47819C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.199-5C>T MANE Select	NP_060352.1:n.199-5C>T
ENST00000249806.11:c.199-5C>T MANE Select	ENSP00000249806.5:n.199-5C>T
NM_017882.2:c.199-5C>T	NP_060352.1:n.199-5C>T
ENST00000249806.9:c.199-5C>T	ENSP00000249806.5:n.199-5C>T
ENST00000538696.5:c.295-5C>T	ENSP00000445770.1:n.295-5C>T
ENST00000562767.1:c.83+15109C>T	ENSP00000456336.1:n.83+15109C>T
ENST00000562767.2:c.83+15109C>T	ENSP00000456336.1:n.83+15109C>T
ENST00000563917.2:n.41-5C>T
ENST00000564752.1:c.199-5C>T	ENSP00000457822.1:n.199-5C>T
ENST00000564846.1:n.631-5C>T
ENST00000565471.5:c.84-4634C>T	ENSP00000457384.1:n.84-4634C>T
ENST00000565471.6:c.84-4634C>T	ENSP00000457384.1:n.84-4634C>T
ENST00000566347.5:c.199-5C>T	ENSP00000457783.1:n.199-5C>T
ENST00000567060.5:c.199-5C>T	ENSP00000454818.1:n.199-5C>T
ENST00000635747.1:c.*102-5C>T	ENSP00000490627.1:n.*102-5C>T
ENST00000635754.1:n.1216C>T
ENST00000636020.1:n.331-5C>T
ENST00000636212.1:c.199-5C>T	ENSP00000489851.1:n.199-5C>T
ENST00000636314.1:c.84-5C>T	ENSP00000490295.1:n.84-5C>T
ENST00000637054.1:c.198+4143C>T	ENSP00000490807.1:n.198+4143C>T
ENST00000637223.1:c.*102-5C>T	ENSP00000490010.1:n.*102-5C>T
ENST00000637329.1:c.110-5C>T
ENST00000637450.1:c.84-5C>T	ENSP00000490204.1:n.84-5C>T
ENST00000637494.1:c.199-3075C>T	ENSP00000490057.1:n.199-3075C>T
ENST00000637667.1:c.199-2530C>T	ENSP00000489843.1:n.199-2530C>T
ENST00000637823.1:c.125-5C>T
ENST00000637888.1:c.198+4143C>T	ENSP00000490546.1:n.198+4143C>T
ENST00000638076.1:c.199-5C>T	ENSP00000490373.1:n.199-5C>T
ENST00000638144.1:n.31-5C>T
ENST00000646164.1:c.38+4143C>T
XR_931861.1:n.302-5C>T