Canonical Allele Identifier: CA252176627

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1043607847
• gnomAD v3: 13-76996267-T-C
• gnomAD v4: 13-76996267-T-C
• MyVariant Identifiers: chr13:g.77570402T>C (hg19) ; chr13:g.76996267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996267T>C , CM000675.2:g.76996267T>C	GRCh38
NC_000013.10:g.77570402T>C , CM000675.1:g.77570402T>C	GRCh37
NC_000013.9:g.76468403T>C	NCBI36
NG_009064.1:g.9344T>C , LRG_692:g.9344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+140T>C (CLN5) MANE Select	ENSP00000366673.5:n.565+140T>C
ENST00000485938.4:c.*129T>C (CLN5)	ENSP00000482959.3:n.*129T>C
ENST00000616833.6:c.565+140T>C (CLN5)	ENSP00000479547.3:n.565+140T>C
ENST00000635838.1:c.174+140T>C
ENST00000635905.1:n.566+140T>C (CLN5)
ENST00000635915.1:c.563+140T>C (CLN5)
ENST00000636183.2:c.565+140T>C (CLN5)	ENSP00000490181.2:n.565+140T>C
ENST00000636520.1:n.2217T>C (CLN5)
ENST00000636525.2:c.565+140T>C (CLN5)	ENSP00000490078.2:n.565+140T>C
ENST00000636602.1:n.651T>C (CLN5)
ENST00000636681.1:c.*256+140T>C (CLN5)	ENSP00000489922.1:n.*256+140T>C
ENST00000636705.1:c.401+140T>C (CLN5)
ENST00000636767.2:c.565+140T>C (CLN5)	ENSP00000489855.2:n.565+140T>C
ENST00000636780.2:c.565+140T>C (CLN5)	ENSP00000489809.2:n.565+140T>C
ENST00000637192.1:c.213+140T>C
ENST00000637278.1:n.891+140T>C (CLN5)
ENST00000637397.2:c.565+140T>C (CLN5)	ENSP00000490422.2:n.565+140T>C
ENST00000637537.2:c.565+140T>C (CLN5)	ENSP00000489711.2:n.565+140T>C
ENST00000638101.1:c.169+140T>C	ENSP00000490535.1:n.169+140T>C
ENST00000638147.2:c.565+140T>C	ENSP00000490953.2:n.565+140T>C
ENST00000377453.7:c.712+140T>C (CLN5)	ENSP00000366673.3:n.712+140T>C
ENST00000485797.2:n.174-3316A>G (FBXL3)
ENST00000485938.2:c.688T>C (CLN5)
ENST00000616833.4:c.565+140T>C (CLN5)	ENSP00000479547.1:n.565+140T>C
NM_006493.2:c.712+140T>C , LRG_692t1:c.712+140T>C (CLN5)	NP_006484.1:n.712+140T>C
XM_011534917.1:c.712+140T>C (CLN5)	XP_011533219.1:n.712+140T>C
NM_001366624.1:c.565+140T>C (CLN5)	NP_001353553.1:n.565+140T>C
NM_006493.3:c.565+140T>C (CLN5)	NP_006484.2:n.565+140T>C
XM_017020538.2:c.644-3316A>G (FBXL3)	XP_016876027.1:n.644-3316A>G
NM_001366624.2:c.565+140T>C (CLN5)	NP_001353553.1:n.565+140T>C
NM_006493.4:c.565+140T>C (CLN5) MANE Select	NP_006484.2:n.565+140T>C