Canonical Allele Identifier: CA701026255

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1394616479
• gnomAD v3: 13-77000168-T-C
• gnomAD v4: 13-77000168-T-C
• MyVariant Identifiers: chr13:g.77574303T>C (hg19) ; chr13:g.77000168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000168T>C , CM000675.2:g.77000168T>C	GRCh38
NC_000013.10:g.77574303T>C , CM000675.1:g.77574303T>C	GRCh37
NC_000013.9:g.76472304T>C	NCBI36
NG_009064.1:g.13245T>C , LRG_692:g.13245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-290T>C (CLN5) MANE Select	ENSP00000366673.5:n.566-290T>C
ENST00000616833.6:c.*7+173T>C (CLN5)	ENSP00000479547.3:n.*7+173T>C
ENST00000635761.1:n.365+22T>C (CLN5)
ENST00000635838.1:c.174+4041T>C
ENST00000635905.1:n.566+4041T>C (CLN5)
ENST00000635915.1:c.564-290T>C (CLN5)
ENST00000636183.2:c.566-290T>C (CLN5)	ENSP00000490181.2:n.566-290T>C
ENST00000636525.2:c.565+4041T>C (CLN5)	ENSP00000490078.2:n.565+4041T>C
ENST00000636681.1:c.*257-290T>C (CLN5)	ENSP00000489922.1:n.*257-290T>C
ENST00000636705.1:c.402-290T>C (CLN5)
ENST00000636767.2:c.565+4041T>C (CLN5)	ENSP00000489855.2:n.565+4041T>C
ENST00000636780.2:c.*15-290T>C (CLN5)	ENSP00000489809.2:n.*15-290T>C
ENST00000637192.1:c.213+4041T>C
ENST00000637278.1:n.892-290T>C (CLN5)
ENST00000637397.2:c.565+4041T>C (CLN5)	ENSP00000490422.2:n.565+4041T>C
ENST00000638101.1:c.169+4041T>C	ENSP00000490535.1:n.169+4041T>C
ENST00000638147.2:c.565+4041T>C	ENSP00000490953.2:n.565+4041T>C
ENST00000377453.7:c.713-290T>C (CLN5)	ENSP00000366673.3:n.713-290T>C
ENST00000477982.2:n.2141A>G (FBXL3)
ENST00000485797.2:n.174-7217A>G (FBXL3)
ENST00000616833.4:c.566-290T>C (CLN5)	ENSP00000479547.1:n.566-290T>C
NM_006493.2:c.713-290T>C , LRG_692t1:c.713-290T>C (CLN5)	NP_006484.1:n.713-290T>C
XM_011534917.1:c.*15-290T>C (CLN5)	XP_011533219.1:n.*15-290T>C
NM_001366624.1:c.*15-290T>C (CLN5)	NP_001353553.1:n.*15-290T>C
NM_006493.3:c.566-290T>C (CLN5)	NP_006484.2:n.566-290T>C
XM_017020538.2:c.644-7217A>G (FBXL3)	XP_016876027.1:n.644-7217A>G
NM_001366624.2:c.*15-290T>C (CLN5)	NP_001353553.1:n.*15-290T>C
NM_006493.4:c.566-290T>C (CLN5) MANE Select	NP_006484.2:n.566-290T>C