Canonical Allele Identifier: CA2103428474

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996112G= , CM000675.2:g.76996112G=	GRCh38
NC_000013.10:g.77570247G= , CM000675.1:g.77570247G=	GRCh37
NC_000013.9:g.76468248G=	NCBI36
NG_009064.1:g.9189G= , LRG_692:g.9189G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.550G= (CLN5) MANE Select	ENSP00000366673.5:p.Val184=
ENST00000485938.4:c.550G= (CLN5)	ENSP00000482959.3:p.Val184=
ENST00000616833.6:c.550G= (CLN5)	ENSP00000479547.3:p.Val184=
ENST00000635838.1:c.159G=
ENST00000635905.1:n.551G= (CLN5)
ENST00000635915.1:c.548G= (CLN5)
ENST00000636183.2:c.550G= (CLN5)	ENSP00000490181.2:p.Val184=
ENST00000636520.1:n.2062G= (CLN5)
ENST00000636525.2:c.550G= (CLN5)	ENSP00000490078.2:p.Val184=
ENST00000636602.1:n.496G= (CLN5)
ENST00000636681.1:c.*241G= (CLN5)	ENSP00000489922.1:n.*241G=
ENST00000636705.1:c.386G= (CLN5)
ENST00000636767.2:c.550G= (CLN5)	ENSP00000489855.2:p.Val184=
ENST00000636780.2:c.550G= (CLN5)	ENSP00000489809.2:p.Val184=
ENST00000637192.1:c.198G=
ENST00000637278.1:n.876G= (CLN5)
ENST00000637397.2:c.550G= (CLN5)	ENSP00000490422.2:p.Val184=
ENST00000637537.2:c.550G= (CLN5)	ENSP00000489711.2:p.Val184=
ENST00000638101.1:c.154G=	ENSP00000490535.1:p.Val52=
ENST00000638147.2:c.550G=	ENSP00000490953.2:p.Val184=
ENST00000377453.7:c.697G= (CLN5)	ENSP00000366673.3:p.Val233=
ENST00000485797.2:n.174-3161C= (FBXL3)
ENST00000485938.2:c.533G= (CLN5)
ENST00000616833.4:c.550G= (CLN5)	ENSP00000479547.1:p.Val184=
NM_006493.2:c.697G= , LRG_692t1:c.697G= (CLN5)	NP_006484.1:p.Val233=
XM_011534917.1:c.697G= (CLN5)	XP_011533219.1:p.Val233=
NM_001366624.1:c.550G= (CLN5)	NP_001353553.1:p.Val184=
NM_006493.3:c.550G= (CLN5)	NP_006484.2:p.Val184=
XM_017020538.2:c.644-3161C= (FBXL3)	XP_016876027.1:n.644-3161C=
NM_001366624.2:c.550G= (CLN5)	NP_001353553.1:p.Val184=
NM_006493.4:c.550G= (CLN5) MANE Select	NP_006484.2:p.Val184=