Canonical Allele Identifier: CA7007202

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 373760
• ClinVar RCV Id: RCV000414655 ; RCV000686723 ; RCV001275303
• dbSNP Id: rs201464545
• ExAC: 13:77570121 G / C
• gnomAD v2: 13-77570121-G-C
• gnomAD v3: 13-76995986-G-C
• gnomAD v4: 13-76995986-G-C
• MyVariant Identifiers: chr13:g.77570121G>C (hg19) ; chr13:g.76995986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995986G>C , CM000675.2:g.76995986G>C	GRCh38
NC_000013.10:g.77570121G>C , CM000675.1:g.77570121G>C	GRCh37
NC_000013.9:g.76468122G>C	NCBI36
NG_009064.1:g.9063G>C , LRG_692:g.9063G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.424G>C (CLN5) MANE Select	ENSP00000366673.5:p.Gly142Arg
ENST00000485938.4:c.424G>C (CLN5)	ENSP00000482959.3:p.Gly142Arg
ENST00000616833.6:c.424G>C (CLN5)	ENSP00000479547.3:p.Gly142Arg
ENST00000635838.1:c.33G>C
ENST00000635905.1:n.425G>C (CLN5)
ENST00000635915.1:c.422G>C (CLN5)
ENST00000635989.1:n.491G>C (CLN5)
ENST00000636183.2:c.424G>C (CLN5)	ENSP00000490181.2:p.Gly142Arg
ENST00000636520.1:n.1936G>C (CLN5)
ENST00000636525.2:c.424G>C (CLN5)	ENSP00000490078.2:p.Gly142Arg
ENST00000636602.1:n.370G>C (CLN5)
ENST00000636681.1:c.*115G>C (CLN5)	ENSP00000489922.1:n.*115G>C
ENST00000636705.1:c.260G>C (CLN5)
ENST00000636767.2:c.424G>C (CLN5)	ENSP00000489855.2:p.Gly142Arg
ENST00000636780.2:c.424G>C (CLN5)	ENSP00000489809.2:p.Gly142Arg
ENST00000637192.1:c.72G>C
ENST00000637278.1:n.750G>C (CLN5)
ENST00000637397.2:c.424G>C (CLN5)	ENSP00000490422.2:p.Gly142Arg
ENST00000637537.2:c.424G>C (CLN5)	ENSP00000489711.2:p.Gly142Arg
ENST00000638101.1:c.28G>C	ENSP00000490535.1:p.Gly10Arg
ENST00000638147.2:c.424G>C	ENSP00000490953.2:p.Gly142Arg
ENST00000377453.7:c.571G>C (CLN5)	ENSP00000366673.3:p.Gly191Arg
ENST00000485797.2:n.174-3035C>G (FBXL3)
ENST00000485938.2:c.407G>C (CLN5)
ENST00000616833.4:c.424G>C (CLN5)	ENSP00000479547.1:p.Gly142Arg
NM_006493.2:c.571G>C , LRG_692t1:c.571G>C (CLN5)	NP_006484.1:p.Gly191Arg
XM_011534917.1:c.571G>C (CLN5)	XP_011533219.1:p.Gly191Arg
NM_001366624.1:c.424G>C (CLN5)	NP_001353553.1:p.Gly142Arg
NM_006493.3:c.424G>C (CLN5)	NP_006484.2:p.Gly142Arg
XM_017020538.2:c.644-3035C>G (FBXL3)	XP_016876027.1:n.644-3035C>G
NM_001366624.2:c.424G>C (CLN5)	NP_001353553.1:p.Gly142Arg
NM_006493.4:c.424G>C (CLN5) MANE Select	NP_006484.2:p.Gly142Arg