Canonical Allele Identifier: CA2103428315

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996062T= , CM000675.2:g.76996062T=	GRCh38
NC_000013.10:g.77570197T= , CM000675.1:g.77570197T=	GRCh37
NC_000013.9:g.76468198T=	NCBI36
NG_009064.1:g.9139T= , LRG_692:g.9139T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.500T= (CLN5) MANE Select	ENSP00000366673.5:p.Phe167=
ENST00000485938.4:c.500T= (CLN5)	ENSP00000482959.3:p.Phe167=
ENST00000616833.6:c.500T= (CLN5)	ENSP00000479547.3:p.Phe167=
ENST00000635838.1:c.109T=
ENST00000635905.1:n.501T= (CLN5)
ENST00000635915.1:c.498T= (CLN5)
ENST00000635989.1:n.567T= (CLN5)
ENST00000636183.2:c.500T= (CLN5)	ENSP00000490181.2:p.Phe167=
ENST00000636520.1:n.2012T= (CLN5)
ENST00000636525.2:c.500T= (CLN5)	ENSP00000490078.2:p.Phe167=
ENST00000636602.1:n.446T= (CLN5)
ENST00000636681.1:c.*191T= (CLN5)	ENSP00000489922.1:n.*191T=
ENST00000636705.1:c.336T= (CLN5)
ENST00000636767.2:c.500T= (CLN5)	ENSP00000489855.2:p.Phe167=
ENST00000636780.2:c.500T= (CLN5)	ENSP00000489809.2:p.Phe167=
ENST00000637192.1:c.148T=
ENST00000637278.1:n.826T= (CLN5)
ENST00000637397.2:c.500T= (CLN5)	ENSP00000490422.2:p.Phe167=
ENST00000637537.2:c.500T= (CLN5)	ENSP00000489711.2:p.Phe167=
ENST00000638101.1:c.104T=	ENSP00000490535.1:p.Phe35=
ENST00000638147.2:c.500T=	ENSP00000490953.2:p.Phe167=
ENST00000377453.7:c.647T= (CLN5)	ENSP00000366673.3:p.Phe216=
ENST00000485797.2:n.174-3111A= (FBXL3)
ENST00000485938.2:c.483T= (CLN5)
ENST00000616833.4:c.500T= (CLN5)	ENSP00000479547.1:p.Phe167=
NM_006493.2:c.647T= , LRG_692t1:c.647T= (CLN5)	NP_006484.1:p.Phe216=
XM_011534917.1:c.647T= (CLN5)	XP_011533219.1:p.Phe216=
NM_001366624.1:c.500T= (CLN5)	NP_001353553.1:p.Phe167=
NM_006493.3:c.500T= (CLN5)	NP_006484.2:p.Phe167=
XM_017020538.2:c.644-3111A= (FBXL3)	XP_016876027.1:n.644-3111A=
NM_001366624.2:c.500T= (CLN5)	NP_001353553.1:p.Phe167=
NM_006493.4:c.500T= (CLN5) MANE Select	NP_006484.2:p.Phe167=