Canonical Allele Identifier: CA2103436361

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000830A= , CM000675.2:g.77000830A=	GRCh38
NC_000013.10:g.77574965A= , CM000675.1:g.77574965A=	GRCh37
NC_000013.9:g.76472966A=	NCBI36
NG_009064.1:g.13907A= , LRG_692:g.13907A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.938A= (CLN5) MANE Select	ENSP00000366673.5:p.Asp313=
ENST00000616833.6:c.*380A= (CLN5)	ENSP00000479547.3:n.*380A=
ENST00000635838.1:c.174+4703A=
ENST00000635905.1:n.566+4703A= (CLN5)
ENST00000635915.1:c.936A= (CLN5)
ENST00000636183.2:c.938A= (CLN5)	ENSP00000490181.2:p.Asp313=
ENST00000636525.2:c.565+4703A= (CLN5)	ENSP00000490078.2:n.565+4703A=
ENST00000636681.1:c.*629A= (CLN5)	ENSP00000489922.1:n.*629A=
ENST00000636705.1:c.774A= (CLN5)
ENST00000636767.2:c.565+4703A= (CLN5)	ENSP00000489855.2:n.565+4703A=
ENST00000636780.2:c.*387A= (CLN5)	ENSP00000489809.2:n.*387A=
ENST00000637192.1:c.213+4703A=
ENST00000637278.1:n.1264A= (CLN5)
ENST00000637397.2:c.565+4703A= (CLN5)	ENSP00000490422.2:n.565+4703A=
ENST00000638101.1:c.169+4703A=	ENSP00000490535.1:n.169+4703A=
ENST00000638147.2:c.565+4703A=	ENSP00000490953.2:n.565+4703A=
ENST00000377453.7:c.1085A= (CLN5)	ENSP00000366673.3:p.Asp362=
ENST00000477982.2:n.1479T= (FBXL3)
ENST00000485797.2:n.174-7879T= (FBXL3)
ENST00000616833.4:c.938A= (CLN5)	ENSP00000479547.1:p.Asp313=
NM_006493.2:c.1085A= , LRG_692t1:c.1085A= (CLN5)	NP_006484.1:p.Asp362=
NM_001366624.1:c.*387A= (CLN5)	NP_001353553.1:n.*387A=
NM_006493.3:c.938A= (CLN5)	NP_006484.2:p.Asp313=
XM_017020538.2:c.644-7879T= (FBXL3)	XP_016876027.1:n.644-7879T=
NM_001366624.2:c.*387A= (CLN5)	NP_001353553.1:n.*387A=
NM_006493.4:c.938A= (CLN5) MANE Select	NP_006484.2:p.Asp313=