Canonical Allele Identifier: CA7007213

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs759460716
• ExAC: 13:77570229 A / T
• gnomAD v2: 13-77570229-A-T
• gnomAD v4: 13-76996094-A-T
• MyVariant Identifiers: chr13:g.77570229A>T (hg19) ; chr13:g.76996094A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996094A>T , CM000675.2:g.76996094A>T	GRCh38
NC_000013.10:g.77570229A>T , CM000675.1:g.77570229A>T	GRCh37
NC_000013.9:g.76468230A>T	NCBI36
NG_009064.1:g.9171A>T , LRG_692:g.9171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.532A>T (CLN5) MANE Select	ENSP00000366673.5:p.Asn178Tyr
ENST00000485938.4:c.532A>T (CLN5)	ENSP00000482959.3:p.Asn178Tyr
ENST00000616833.6:c.532A>T (CLN5)	ENSP00000479547.3:p.Asn178Tyr
ENST00000635838.1:c.141A>T
ENST00000635905.1:n.533A>T (CLN5)
ENST00000635915.1:c.530A>T (CLN5)
ENST00000635989.1:n.599A>T (CLN5)
ENST00000636183.2:c.532A>T (CLN5)	ENSP00000490181.2:p.Asn178Tyr
ENST00000636520.1:n.2044A>T (CLN5)
ENST00000636525.2:c.532A>T (CLN5)	ENSP00000490078.2:p.Asn178Tyr
ENST00000636602.1:n.478A>T (CLN5)
ENST00000636681.1:c.*223A>T (CLN5)	ENSP00000489922.1:n.*223A>T
ENST00000636705.1:c.368A>T (CLN5)
ENST00000636767.2:c.532A>T (CLN5)	ENSP00000489855.2:p.Asn178Tyr
ENST00000636780.2:c.532A>T (CLN5)	ENSP00000489809.2:p.Asn178Tyr
ENST00000637192.1:c.180A>T
ENST00000637278.1:n.858A>T (CLN5)
ENST00000637397.2:c.532A>T (CLN5)	ENSP00000490422.2:p.Asn178Tyr
ENST00000637537.2:c.532A>T (CLN5)	ENSP00000489711.2:p.Asn178Tyr
ENST00000638101.1:c.136A>T	ENSP00000490535.1:p.Asn46Tyr
ENST00000638147.2:c.532A>T	ENSP00000490953.2:p.Asn178Tyr
ENST00000377453.7:c.679A>T (CLN5)	ENSP00000366673.3:p.Asn227Tyr
ENST00000485797.2:n.174-3143T>A (FBXL3)
ENST00000485938.2:c.515A>T (CLN5)
ENST00000616833.4:c.532A>T (CLN5)	ENSP00000479547.1:p.Asn178Tyr
NM_006493.2:c.679A>T , LRG_692t1:c.679A>T (CLN5)	NP_006484.1:p.Asn227Tyr
XM_011534917.1:c.679A>T (CLN5)	XP_011533219.1:p.Asn227Tyr
NM_001366624.1:c.532A>T (CLN5)	NP_001353553.1:p.Asn178Tyr
NM_006493.3:c.532A>T (CLN5)	NP_006484.2:p.Asn178Tyr
XM_017020538.2:c.644-3143T>A (FBXL3)	XP_016876027.1:n.644-3143T>A
NM_001366624.2:c.532A>T (CLN5)	NP_001353553.1:p.Asn178Tyr
NM_006493.4:c.532A>T (CLN5) MANE Select	NP_006484.2:p.Asn178Tyr