Canonical Allele Identifier: CA388308709

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77570071C>G (hg19) ; chr13:g.76995936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995936C>G , CM000675.2:g.76995936C>G	GRCh38
NC_000013.10:g.77570071C>G , CM000675.1:g.77570071C>G	GRCh37
NC_000013.9:g.76468072C>G	NCBI36
NG_009064.1:g.9013C>G , LRG_692:g.9013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.374C>G (CLN5) MANE Select	ENSP00000366673.5:p.Thr125Arg
ENST00000485938.4:c.374C>G (CLN5)	ENSP00000482959.3:p.Thr125Arg
ENST00000616833.6:c.374C>G (CLN5)	ENSP00000479547.3:p.Thr125Arg
ENST00000635905.1:n.375C>G (CLN5)
ENST00000635915.1:c.372C>G (CLN5)
ENST00000635989.1:n.441C>G (CLN5)
ENST00000636183.2:c.374C>G (CLN5)	ENSP00000490181.2:p.Thr125Arg
ENST00000636520.1:n.1886C>G (CLN5)
ENST00000636525.2:c.374C>G (CLN5)	ENSP00000490078.2:p.Thr125Arg
ENST00000636602.1:n.320C>G (CLN5)
ENST00000636681.1:c.*65C>G (CLN5)	ENSP00000489922.1:n.*65C>G
ENST00000636705.1:c.210C>G (CLN5)
ENST00000636767.2:c.374C>G (CLN5)	ENSP00000489855.2:p.Thr125Arg
ENST00000636780.2:c.374C>G (CLN5)	ENSP00000489809.2:p.Thr125Arg
ENST00000637192.1:c.22C>G
ENST00000637278.1:n.700C>G (CLN5)
ENST00000637397.2:c.374C>G (CLN5)	ENSP00000490422.2:p.Thr125Arg
ENST00000637537.2:c.374C>G (CLN5)	ENSP00000489711.2:p.Thr125Arg
ENST00000638147.2:c.374C>G	ENSP00000490953.2:p.Thr125Arg
ENST00000377453.7:c.521C>G (CLN5)	ENSP00000366673.3:p.Thr174Arg
ENST00000485797.2:n.174-2985G>C (FBXL3)
ENST00000485938.2:c.357C>G (CLN5)
ENST00000616833.4:c.374C>G (CLN5)	ENSP00000479547.1:p.Thr125Arg
NM_006493.2:c.521C>G , LRG_692t1:c.521C>G (CLN5)	NP_006484.1:p.Thr174Arg
XM_011534917.1:c.521C>G (CLN5)	XP_011533219.1:p.Thr174Arg
NM_001366624.1:c.374C>G (CLN5)	NP_001353553.1:p.Thr125Arg
NM_006493.3:c.374C>G (CLN5)	NP_006484.2:p.Thr125Arg
XM_017020538.2:c.644-2985G>C (FBXL3)	XP_016876027.1:n.644-2985G>C
NM_001366624.2:c.374C>G (CLN5)	NP_001353553.1:p.Thr125Arg
NM_006493.4:c.374C>G (CLN5) MANE Select	NP_006484.2:p.Thr125Arg