Canonical Allele Identifier: CA388313764

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2484048
• ClinVar RCV Id: RCV003199950
• gnomAD v4: 13-77000746-G-A
• MyVariant Identifiers: chr13:g.77574881G>A (hg19) ; chr13:g.77000746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000746G>A , CM000675.2:g.77000746G>A	GRCh38
NC_000013.10:g.77574881G>A , CM000675.1:g.77574881G>A	GRCh37
NC_000013.9:g.76472882G>A	NCBI36
NG_009064.1:g.13823G>A , LRG_692:g.13823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.854G>A (CLN5) MANE Select	ENSP00000366673.5:p.Gly285Asp
ENST00000616833.6:c.*296G>A (CLN5)	ENSP00000479547.3:n.*296G>A
ENST00000635838.1:c.174+4619G>A
ENST00000635905.1:n.566+4619G>A (CLN5)
ENST00000635915.1:c.852G>A (CLN5)
ENST00000636183.2:c.854G>A (CLN5)	ENSP00000490181.2:p.Gly285Asp
ENST00000636525.2:c.565+4619G>A (CLN5)	ENSP00000490078.2:n.565+4619G>A
ENST00000636681.1:c.*545G>A (CLN5)	ENSP00000489922.1:n.*545G>A
ENST00000636705.1:c.690G>A (CLN5)
ENST00000636767.2:c.565+4619G>A (CLN5)	ENSP00000489855.2:n.565+4619G>A
ENST00000636780.2:c.*303G>A (CLN5)	ENSP00000489809.2:n.*303G>A
ENST00000637192.1:c.213+4619G>A
ENST00000637278.1:n.1180G>A (CLN5)
ENST00000637397.2:c.565+4619G>A (CLN5)	ENSP00000490422.2:n.565+4619G>A
ENST00000638101.1:c.169+4619G>A	ENSP00000490535.1:n.169+4619G>A
ENST00000638147.2:c.565+4619G>A	ENSP00000490953.2:n.565+4619G>A
ENST00000377453.7:c.1001G>A (CLN5)	ENSP00000366673.3:p.Gly334Asp
ENST00000477982.2:n.1563C>T (FBXL3)
ENST00000485797.2:n.174-7795C>T (FBXL3)
ENST00000616833.4:c.854G>A (CLN5)	ENSP00000479547.1:p.Gly285Asp
NM_006493.2:c.1001G>A , LRG_692t1:c.1001G>A (CLN5)	NP_006484.1:p.Gly334Asp
XM_011534917.1:c.*303G>A (CLN5)	XP_011533219.1:n.*303G>A
NM_001366624.1:c.*303G>A (CLN5)	NP_001353553.1:n.*303G>A
NM_006493.3:c.854G>A (CLN5)	NP_006484.2:p.Gly285Asp
XM_017020538.2:c.644-7795C>T (FBXL3)	XP_016876027.1:n.644-7795C>T
NM_001366624.2:c.*303G>A (CLN5)	NP_001353553.1:n.*303G>A
NM_006493.4:c.854G>A (CLN5) MANE Select	NP_006484.2:p.Gly285Asp