Canonical Allele Identifier: CA313915

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 205143
• ClinVar RCV Id: RCV000187068 ; RCV000693093 ; RCV000766777 ; RCV001272144
• dbSNP Id: rs369122820
• ExAC: 13:77570068 G / A
• gnomAD v2: 13-77570068-G-A
• gnomAD v3: 13-76995933-G-A
• gnomAD v4: 13-76995933-G-A
• MyVariant Identifiers: chr13:g.77570068G>A (hg19) ; chr13:g.76995933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995933G>A , CM000675.2:g.76995933G>A	GRCh38
NC_000013.10:g.77570068G>A , CM000675.1:g.77570068G>A	GRCh37
NC_000013.9:g.76468069G>A	NCBI36
NG_009064.1:g.9010G>A , LRG_692:g.9010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.371G>A (CLN5) MANE Select	ENSP00000366673.5:p.Ser124Asn
ENST00000485938.4:c.371G>A (CLN5)	ENSP00000482959.3:p.Ser124Asn
ENST00000616833.6:c.371G>A (CLN5)	ENSP00000479547.3:p.Ser124Asn
ENST00000635905.1:n.372G>A (CLN5)
ENST00000635915.1:c.369G>A (CLN5)
ENST00000635989.1:n.438G>A (CLN5)
ENST00000636183.2:c.371G>A (CLN5)	ENSP00000490181.2:p.Ser124Asn
ENST00000636520.1:n.1883G>A (CLN5)
ENST00000636525.2:c.371G>A (CLN5)	ENSP00000490078.2:p.Ser124Asn
ENST00000636602.1:n.317G>A (CLN5)
ENST00000636681.1:c.*62G>A (CLN5)	ENSP00000489922.1:n.*62G>A
ENST00000636705.1:c.207G>A (CLN5)
ENST00000636767.2:c.371G>A (CLN5)	ENSP00000489855.2:p.Ser124Asn
ENST00000636780.2:c.371G>A (CLN5)	ENSP00000489809.2:p.Ser124Asn
ENST00000637192.1:c.19G>A
ENST00000637278.1:n.697G>A (CLN5)
ENST00000637397.2:c.371G>A (CLN5)	ENSP00000490422.2:p.Ser124Asn
ENST00000637537.2:c.371G>A (CLN5)	ENSP00000489711.2:p.Ser124Asn
ENST00000638147.2:c.371G>A	ENSP00000490953.2:p.Ser124Asn
ENST00000377453.7:c.518G>A (CLN5)	ENSP00000366673.3:p.Ser173Asn
ENST00000485797.2:n.174-2982C>T (FBXL3)
ENST00000485938.2:c.354G>A (CLN5)
ENST00000616833.4:c.371G>A (CLN5)	ENSP00000479547.1:p.Ser124Asn
NM_006493.2:c.518G>A , LRG_692t1:c.518G>A (CLN5)	NP_006484.1:p.Ser173Asn
XM_011534917.1:c.518G>A (CLN5)	XP_011533219.1:p.Ser173Asn
NM_001366624.1:c.371G>A (CLN5)	NP_001353553.1:p.Ser124Asn
NM_006493.3:c.371G>A (CLN5)	NP_006484.2:p.Ser124Asn
XM_017020538.2:c.644-2982C>T (FBXL3)	XP_016876027.1:n.644-2982C>T
NM_001366624.2:c.371G>A (CLN5)	NP_001353553.1:p.Ser124Asn
NM_006493.4:c.371G>A (CLN5) MANE Select	NP_006484.2:p.Ser124Asn