Canonical Allele Identifier: CA2515448322

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001212A>T , CM000675.2:g.77001212A>T	GRCh38
NC_000013.10:g.77575347A>T , CM000675.1:g.77575347A>T	GRCh37
NC_000013.9:g.76473348A>T	NCBI36
NG_009064.1:g.14289A>T , LRG_692:g.14289A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*243A>T (CLN5) MANE Select	ENSP00000366673.5:n.*243A>T
ENST00000616833.6:c.*762A>T (CLN5)	ENSP00000479547.3:n.*762A>T
ENST00000635838.1:c.174+5085A>T
ENST00000635905.1:n.566+5085A>T (CLN5)
ENST00000635915.1:c.1318A>T (CLN5)
ENST00000636183.2:c.*243A>T (CLN5)	ENSP00000490181.2:n.*243A>T
ENST00000636525.2:c.565+5085A>T (CLN5)	ENSP00000490078.2:n.565+5085A>T
ENST00000636681.1:c.*1011A>T (CLN5)	ENSP00000489922.1:n.*1011A>T
ENST00000636705.1:c.1156A>T (CLN5)
ENST00000636767.2:c.565+5085A>T (CLN5)	ENSP00000489855.2:n.565+5085A>T
ENST00000636780.2:c.*769A>T (CLN5)	ENSP00000489809.2:n.*769A>T
ENST00000637192.1:c.213+5085A>T
ENST00000637278.1:n.1646A>T (CLN5)
ENST00000637397.2:c.565+5085A>T (CLN5)	ENSP00000490422.2:n.565+5085A>T
ENST00000638101.1:c.169+5085A>T	ENSP00000490535.1:n.169+5085A>T
ENST00000638147.2:c.565+5085A>T	ENSP00000490953.2:n.565+5085A>T
ENST00000377453.7:c.*243A>T (CLN5)	ENSP00000366673.3:n.*243A>T
ENST00000477982.2:n.1097T>A (FBXL3)
ENST00000485797.2:n.174-8261T>A (FBXL3)
ENST00000616833.4:c.*243A>T (CLN5)	ENSP00000479547.1:n.*243A>T
NM_006493.2:c.*243A>T , LRG_692t1:c.*243A>T (CLN5)	NP_006484.1:n.*243A>T
NM_001366624.1:c.*769A>T (CLN5)	NP_001353553.1:n.*769A>T
NM_006493.3:c.*243A>T (CLN5)	NP_006484.2:n.*243A>T
XM_017020538.2:c.644-8261T>A (FBXL3)	XP_016876027.1:n.644-8261T>A
NM_001366624.2:c.*769A>T (CLN5)	NP_001353553.1:n.*769A>T
NM_006493.4:c.*243A>T (CLN5) MANE Select	NP_006484.2:n.*243A>T