Canonical Allele Identifier: CA7007248

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs769960861
• ExAC: 13:77574737 G / C
• gnomAD v2: 13-77574737-G-C
• MyVariant Identifiers: chr13:g.77574737G>C (hg19) ; chr13:g.77000602G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000602G>C , CM000675.2:g.77000602G>C	GRCh38
NC_000013.10:g.77574737G>C , CM000675.1:g.77574737G>C	GRCh37
NC_000013.9:g.76472738G>C	NCBI36
NG_009064.1:g.13679G>C , LRG_692:g.13679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.710G>C (CLN5) MANE Select	ENSP00000366673.5:p.Arg237Thr
ENST00000616833.6:c.*152G>C (CLN5)	ENSP00000479547.3:n.*152G>C
ENST00000635838.1:c.174+4475G>C
ENST00000635905.1:n.566+4475G>C (CLN5)
ENST00000635915.1:c.708G>C (CLN5)
ENST00000636183.2:c.710G>C (CLN5)	ENSP00000490181.2:p.Arg237Thr
ENST00000636525.2:c.565+4475G>C (CLN5)	ENSP00000490078.2:n.565+4475G>C
ENST00000636681.1:c.*401G>C (CLN5)	ENSP00000489922.1:n.*401G>C
ENST00000636705.1:c.546G>C (CLN5)
ENST00000636767.2:c.565+4475G>C (CLN5)	ENSP00000489855.2:n.565+4475G>C
ENST00000636780.2:c.*159G>C (CLN5)	ENSP00000489809.2:n.*159G>C
ENST00000637192.1:c.213+4475G>C
ENST00000637278.1:n.1036G>C (CLN5)
ENST00000637397.2:c.565+4475G>C (CLN5)	ENSP00000490422.2:n.565+4475G>C
ENST00000638101.1:c.169+4475G>C	ENSP00000490535.1:n.169+4475G>C
ENST00000638147.2:c.565+4475G>C	ENSP00000490953.2:n.565+4475G>C
ENST00000377453.7:c.857G>C (CLN5)	ENSP00000366673.3:p.Arg286Thr
ENST00000477982.2:n.1707C>G (FBXL3)
ENST00000485797.2:n.174-7651C>G (FBXL3)
ENST00000616833.4:c.710G>C (CLN5)	ENSP00000479547.1:p.Arg237Thr
NM_006493.2:c.857G>C , LRG_692t1:c.857G>C (CLN5)	NP_006484.1:p.Arg286Thr
XM_011534917.1:c.*159G>C (CLN5)	XP_011533219.1:n.*159G>C
NM_001366624.1:c.*159G>C (CLN5)	NP_001353553.1:n.*159G>C
NM_006493.3:c.710G>C (CLN5)	NP_006484.2:p.Arg237Thr
XM_017020538.2:c.644-7651C>G (FBXL3)	XP_016876027.1:n.644-7651C>G
NM_001366624.2:c.*159G>C (CLN5)	NP_001353553.1:n.*159G>C
NM_006493.4:c.710G>C (CLN5) MANE Select	NP_006484.2:p.Arg237Thr