Revel Score:
ENST00000377453 (MANE Select)
0.158
ENST00000541907
0.158
ENST00000535238
0.158
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009018 (AMR)
Genomes Max Group AF
0.00006805 (NFE)
Exomes Max Group AF
0.00010458 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000461A>G , CM000675.2:g.77000461A>G | GRCh38 |
| NC_000013.10:g.77574596A>G , CM000675.1:g.77574596A>G | GRCh37 |
| NC_000013.9:g.76472597A>G | NCBI36 |
| NG_009064.1:g.13538A>G , LRG_692:g.13538A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.569A>G (CLN5) MANE Select | ENSP00000366673.5:p.Asn190Ser | |
| ENST00000616833.6:c.*11A>G (CLN5) | ENSP00000479547.3:n.*11A>G | |
| ENST00000635838.1:c.174+4334A>G | ||
| ENST00000635905.1:n.566+4334A>G (CLN5) | ||
| ENST00000635915.1:c.567A>G (CLN5) | ||
| ENST00000636183.2:c.569A>G (CLN5) | ENSP00000490181.2:p.Asn190Ser | |
| ENST00000636525.2:c.565+4334A>G (CLN5) | ENSP00000490078.2:n.565+4334A>G | |
| ENST00000636681.1:c.*260A>G (CLN5) | ENSP00000489922.1:n.*260A>G | |
| ENST00000636705.1:c.405A>G (CLN5) | ||
| ENST00000636767.2:c.565+4334A>G (CLN5) | ENSP00000489855.2:n.565+4334A>G | |
| ENST00000636780.2:c.*18A>G (CLN5) | ENSP00000489809.2:n.*18A>G | |
| ENST00000637192.1:c.213+4334A>G | ||
| ENST00000637278.1:n.895A>G (CLN5) | ||
| ENST00000637397.2:c.565+4334A>G (CLN5) | ENSP00000490422.2:n.565+4334A>G | |
| ENST00000638101.1:c.169+4334A>G | ENSP00000490535.1:n.169+4334A>G | |
| ENST00000638147.2:c.565+4334A>G | ENSP00000490953.2:n.565+4334A>G | |
| ENST00000377453.7:c.716A>G (CLN5) | ENSP00000366673.3:p.Asn239Ser | |
| ENST00000477982.2:n.1848T>C (FBXL3) | ||
| ENST00000485797.2:n.174-7510T>C (FBXL3) | ||
| ENST00000616833.4:c.569A>G (CLN5) | ENSP00000479547.1:p.Asn190Ser | |
| NM_006493.2:c.716A>G , LRG_692t1:c.716A>G (CLN5) | NP_006484.1:p.Asn239Ser | |
| XM_011534917.1:c.*18A>G (CLN5) | XP_011533219.1:n.*18A>G | |
| NM_001366624.1:c.*18A>G (CLN5) | NP_001353553.1:n.*18A>G | |
| NM_006493.3:c.569A>G (CLN5) | NP_006484.2:p.Asn190Ser | |
| XM_017020538.2:c.644-7510T>C (FBXL3) | XP_016876027.1:n.644-7510T>C | |
| NM_001366624.2:c.*18A>G (CLN5) | NP_001353553.1:n.*18A>G | |
| NM_006493.4:c.569A>G (CLN5) MANE Select | NP_006484.2:p.Asn190Ser |