Canonical Allele Identifier: CA484486506

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1605839
• ClinVar RCV Id: RCV002160152
• dbSNP Id: rs2154035110
• gnomAD v4: 13-77000489-G-A
• MyVariant Identifiers: chr13:g.77574624G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000489G>A , CM000675.2:g.77000489G>A	GRCh38
NC_000013.10:g.77574624G>A , CM000675.1:g.77574624G>A	GRCh37
NC_000013.9:g.76472625G>A	NCBI36
NG_009064.1:g.13566G>A , LRG_692:g.13566G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.597G>A (CLN5) MANE Select	ENSP00000366673.5:p.Val199=
ENST00000616833.6:c.*39G>A (CLN5)	ENSP00000479547.3:n.*39G>A
ENST00000635838.1:c.174+4362G>A
ENST00000635905.1:n.566+4362G>A (CLN5)
ENST00000635915.1:c.595G>A (CLN5)
ENST00000636183.2:c.597G>A (CLN5)	ENSP00000490181.2:p.Val199=
ENST00000636525.2:c.565+4362G>A (CLN5)	ENSP00000490078.2:n.565+4362G>A
ENST00000636681.1:c.*288G>A (CLN5)	ENSP00000489922.1:n.*288G>A
ENST00000636705.1:c.433G>A (CLN5)
ENST00000636767.2:c.565+4362G>A (CLN5)	ENSP00000489855.2:n.565+4362G>A
ENST00000636780.2:c.*46G>A (CLN5)	ENSP00000489809.2:n.*46G>A
ENST00000637192.1:c.213+4362G>A
ENST00000637278.1:n.923G>A (CLN5)
ENST00000637397.2:c.565+4362G>A (CLN5)	ENSP00000490422.2:n.565+4362G>A
ENST00000638101.1:c.169+4362G>A	ENSP00000490535.1:n.169+4362G>A
ENST00000638147.2:c.565+4362G>A	ENSP00000490953.2:n.565+4362G>A
ENST00000377453.7:c.744G>A (CLN5)	ENSP00000366673.3:p.Val248=
ENST00000477982.2:n.1820C>T (FBXL3)
ENST00000485797.2:n.174-7538C>T (FBXL3)
ENST00000616833.4:c.597G>A (CLN5)	ENSP00000479547.1:p.Val199=
NM_006493.2:c.744G>A , LRG_692t1:c.744G>A (CLN5)	NP_006484.1:p.Val248=
XM_011534917.1:c.*46G>A (CLN5)	XP_011533219.1:n.*46G>A
NM_001366624.1:c.*46G>A (CLN5)	NP_001353553.1:n.*46G>A
NM_006493.3:c.597G>A (CLN5)	NP_006484.2:p.Val199=
XM_017020538.2:c.644-7538C>T (FBXL3)	XP_016876027.1:n.644-7538C>T
NM_001366624.2:c.*46G>A (CLN5)	NP_001353553.1:n.*46G>A
NM_006493.4:c.597G>A (CLN5) MANE Select	NP_006484.2:p.Val199=