Canonical Allele Identifier: CA2573149747

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1654720
• ClinVar RCV Id: RCV002156269
• dbSNP Id: rs2154034620

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995057T>C , CM000675.2:g.76995057T>C	GRCh38
NC_000013.10:g.77569192T>C , CM000675.1:g.77569192T>C	GRCh37
NC_000013.9:g.76467193T>C	NCBI36
NG_009064.1:g.8134T>C , LRG_692:g.8134T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.174-6T>C (CLN5) MANE Select	ENSP00000366673.5:n.174-6T>C
ENST00000485938.4:c.174-6T>C (CLN5)	ENSP00000482959.3:n.174-6T>C
ENST00000616833.6:c.174-6T>C (CLN5)	ENSP00000479547.3:n.174-6T>C
ENST00000635905.1:n.175-6T>C (CLN5)
ENST00000635915.1:c.113-6T>C (CLN5)
ENST00000635989.1:n.184-6T>C (CLN5)
ENST00000636183.2:c.174-6T>C (CLN5)	ENSP00000490181.2:n.174-6T>C
ENST00000636520.1:n.1007T>C (CLN5)
ENST00000636525.2:c.174-6T>C (CLN5)	ENSP00000490078.2:n.174-6T>C
ENST00000636681.1:c.-82-6T>C (CLN5)	ENSP00000489922.1:n.-82-6T>C
ENST00000636705.1:c.10-6T>C (CLN5)
ENST00000636767.2:c.174-6T>C (CLN5)	ENSP00000489855.2:n.174-6T>C
ENST00000636780.2:c.174-6T>C (CLN5)	ENSP00000489809.2:n.174-6T>C
ENST00000637397.2:c.174-6T>C (CLN5)	ENSP00000490422.2:n.174-6T>C
ENST00000637537.2:c.174-6T>C (CLN5)	ENSP00000489711.2:n.174-6T>C
ENST00000638147.2:c.174-6T>C	ENSP00000490953.2:n.174-6T>C
ENST00000377453.7:c.321-6T>C (CLN5)	ENSP00000366673.3:n.321-6T>C
ENST00000485797.2:n.174-2106A>G (FBXL3)
ENST00000485938.2:c.157-6T>C (CLN5)
ENST00000616833.4:c.174-6T>C (CLN5)	ENSP00000479547.1:n.174-6T>C
NM_006493.2:c.321-6T>C , LRG_692t1:c.321-6T>C (CLN5)	NP_006484.1:n.321-6T>C
XM_011534917.1:c.321-6T>C (CLN5)	XP_011533219.1:n.321-6T>C
NM_001366624.1:c.174-6T>C (CLN5)	NP_001353553.1:n.174-6T>C
NM_006493.3:c.174-6T>C (CLN5)	NP_006484.2:n.174-6T>C
XM_017020538.2:c.644-2106A>G (FBXL3)	XP_016876027.1:n.644-2106A>G
NM_001366624.2:c.174-6T>C (CLN5)	NP_001353553.1:n.174-6T>C
NM_006493.4:c.174-6T>C (CLN5) MANE Select	NP_006484.2:n.174-6T>C