Canonical Allele Identifier: CA263898

Linked Data

ClinVar Variation Id: 56539
dbSNP Id: rs386833975

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995990A>G , CM000675.2:g.76995990A>G GRCh38
NC_000013.10:g.77570125A>G , CM000675.1:g.77570125A>G GRCh37
NC_000013.9:g.76468126A>G NCBI36
NG_009064.1:g.9067A>G , LRG_692:g.9067A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.428A>G (CLN5) MANE Select ENSP00000366673.5:p.Asn143Ser
ENST00000485938.4:c.428A>G (CLN5) ENSP00000482959.3:p.Asn143Ser
ENST00000616833.6:c.428A>G (CLN5) ENSP00000479547.3:p.Asn143Ser
ENST00000635838.1:c.37A>G
ENST00000635905.1:n.429A>G (CLN5)
ENST00000635915.1:c.426A>G (CLN5)
ENST00000635989.1:n.495A>G (CLN5)
ENST00000636183.2:c.428A>G (CLN5) ENSP00000490181.2:p.Asn143Ser
ENST00000636520.1:n.1940A>G (CLN5)
ENST00000636525.2:c.428A>G (CLN5) ENSP00000490078.2:p.Asn143Ser
ENST00000636602.1:n.374A>G (CLN5)
ENST00000636681.1:c.*119A>G (CLN5) ENSP00000489922.1:n.*119A>G
ENST00000636705.1:c.264A>G (CLN5)
ENST00000636767.2:c.428A>G (CLN5) ENSP00000489855.2:p.Asn143Ser
ENST00000636780.2:c.428A>G (CLN5) ENSP00000489809.2:p.Asn143Ser
ENST00000637192.1:c.76A>G
ENST00000637278.1:n.754A>G (CLN5)
ENST00000637397.2:c.428A>G (CLN5) ENSP00000490422.2:p.Asn143Ser
ENST00000637537.2:c.428A>G (CLN5) ENSP00000489711.2:p.Asn143Ser
ENST00000638101.1:c.32A>G ENSP00000490535.1:p.Asn11Ser
ENST00000638147.2:c.428A>G ENSP00000490953.2:p.Asn143Ser
ENST00000377453.7:c.575A>G (CLN5) ENSP00000366673.3:p.Asn192Ser
ENST00000485797.2:n.174-3039T>C (FBXL3)
ENST00000485938.2:c.411A>G (CLN5)
ENST00000616833.4:c.428A>G (CLN5) ENSP00000479547.1:p.Asn143Ser
NM_006493.2:c.575A>G , LRG_692t1:c.575A>G (CLN5) NP_006484.1:p.Asn192Ser
XM_011534917.1:c.575A>G (CLN5) XP_011533219.1:p.Asn192Ser
NM_001366624.1:c.428A>G (CLN5) NP_001353553.1:p.Asn143Ser
NM_006493.3:c.428A>G (CLN5) NP_006484.2:p.Asn143Ser
XM_017020538.2:c.644-3039T>C (FBXL3) XP_016876027.1:n.644-3039T>C
NM_001366624.2:c.428A>G (CLN5) NP_001353553.1:p.Asn143Ser
NM_006493.4:c.428A>G (CLN5) MANE Select NP_006484.2:p.Asn143Ser