Linked Data
ClinVar Variation Id:
2566
dbSNP Id:
rs28940280
ExAC:
13:77574715 G / A
gnomAD v2:
13-77574715-G-A
gnomAD v4:
13-77000580-G-A
PubMed:
PMID:9662406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000580G>A , CM000675.2:g.77000580G>A | GRCh38 |
| NC_000013.10:g.77574715G>A , CM000675.1:g.77574715G>A | GRCh37 |
| NC_000013.9:g.76472716G>A | NCBI36 |
| NG_009064.1:g.13657G>A , LRG_692:g.13657G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.688G>A (CLN5) MANE Select | ENSP00000366673.5:p.Asp230Asn | |
| ENST00000616833.6:c.*130G>A (CLN5) | ENSP00000479547.3:n.*130G>A | |
| ENST00000635838.1:c.174+4453G>A | ||
| ENST00000635905.1:n.566+4453G>A (CLN5) | ||
| ENST00000635915.1:c.686G>A (CLN5) | ||
| ENST00000636183.2:c.688G>A (CLN5) | ENSP00000490181.2:p.Asp230Asn | |
| ENST00000636525.2:c.565+4453G>A (CLN5) | ENSP00000490078.2:n.565+4453G>A | |
| ENST00000636681.1:c.*379G>A (CLN5) | ENSP00000489922.1:n.*379G>A | |
| ENST00000636705.1:c.524G>A (CLN5) | ||
| ENST00000636767.2:c.565+4453G>A (CLN5) | ENSP00000489855.2:n.565+4453G>A | |
| ENST00000636780.2:c.*137G>A (CLN5) | ENSP00000489809.2:n.*137G>A | |
| ENST00000637192.1:c.213+4453G>A | ||
| ENST00000637278.1:n.1014G>A (CLN5) | ||
| ENST00000637397.2:c.565+4453G>A (CLN5) | ENSP00000490422.2:n.565+4453G>A | |
| ENST00000638101.1:c.169+4453G>A | ENSP00000490535.1:n.169+4453G>A | |
| ENST00000638147.2:c.565+4453G>A | ENSP00000490953.2:n.565+4453G>A | |
| ENST00000377453.7:c.835G>A (CLN5) | ENSP00000366673.3:p.Asp279Asn | |
| ENST00000477982.2:n.1729C>T (FBXL3) | ||
| ENST00000485797.2:n.174-7629C>T (FBXL3) | ||
| ENST00000616833.4:c.688G>A (CLN5) | ENSP00000479547.1:p.Asp230Asn | |
| NM_006493.2:c.835G>A , LRG_692t1:c.835G>A (CLN5) | NP_006484.1:p.Asp279Asn | |
| XM_011534917.1:c.*137G>A (CLN5) | XP_011533219.1:n.*137G>A | |
| NM_001366624.1:c.*137G>A (CLN5) | NP_001353553.1:n.*137G>A | |
| NM_006493.3:c.688G>A (CLN5) | NP_006484.2:p.Asp230Asn | |
| XM_017020538.2:c.644-7629C>T (FBXL3) | XP_016876027.1:n.644-7629C>T | |
| NM_001366624.2:c.*137G>A (CLN5) | NP_001353553.1:n.*137G>A | |
| NM_006493.4:c.688G>A (CLN5) MANE Select | NP_006484.2:p.Asp230Asn |