Linked Data
ClinVar Variation Id:
56545
dbSNP Id:
rs386833981
gnomAD v4:
13-77000517-T-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000517T>G , CM000675.2:g.77000517T>G | GRCh38 |
| NC_000013.10:g.77574652T>G , CM000675.1:g.77574652T>G | GRCh37 |
| NC_000013.9:g.76472653T>G | NCBI36 |
| NG_009064.1:g.13594T>G , LRG_692:g.13594T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.625T>G (CLN5) MANE Select | ENSP00000366673.5:p.Tyr209Asp | |
| ENST00000616833.6:c.*67T>G (CLN5) | ENSP00000479547.3:n.*67T>G | |
| ENST00000635838.1:c.174+4390T>G | ||
| ENST00000635905.1:n.566+4390T>G (CLN5) | ||
| ENST00000635915.1:c.623T>G (CLN5) | ||
| ENST00000636183.2:c.625T>G (CLN5) | ENSP00000490181.2:p.Tyr209Asp | |
| ENST00000636525.2:c.565+4390T>G (CLN5) | ENSP00000490078.2:n.565+4390T>G | |
| ENST00000636681.1:c.*316T>G (CLN5) | ENSP00000489922.1:n.*316T>G | |
| ENST00000636705.1:c.461T>G (CLN5) | ||
| ENST00000636767.2:c.565+4390T>G (CLN5) | ENSP00000489855.2:n.565+4390T>G | |
| ENST00000636780.2:c.*74T>G (CLN5) | ENSP00000489809.2:n.*74T>G | |
| ENST00000637192.1:c.213+4390T>G | ||
| ENST00000637278.1:n.951T>G (CLN5) | ||
| ENST00000637397.2:c.565+4390T>G (CLN5) | ENSP00000490422.2:n.565+4390T>G | |
| ENST00000638101.1:c.169+4390T>G | ENSP00000490535.1:n.169+4390T>G | |
| ENST00000638147.2:c.565+4390T>G | ENSP00000490953.2:n.565+4390T>G | |
| ENST00000377453.7:c.772T>G (CLN5) | ENSP00000366673.3:p.Tyr258Asp | |
| ENST00000477982.2:n.1792A>C (FBXL3) | ||
| ENST00000485797.2:n.174-7566A>C (FBXL3) | ||
| ENST00000616833.4:c.625T>G (CLN5) | ENSP00000479547.1:p.Tyr209Asp | |
| NM_006493.2:c.772T>G , LRG_692t1:c.772T>G (CLN5) | NP_006484.1:p.Tyr258Asp | |
| XM_011534917.1:c.*74T>G (CLN5) | XP_011533219.1:n.*74T>G | |
| NM_001366624.1:c.*74T>G (CLN5) | NP_001353553.1:n.*74T>G | |
| NM_006493.3:c.625T>G (CLN5) | NP_006484.2:p.Tyr209Asp | |
| XM_017020538.2:c.644-7566A>C (FBXL3) | XP_016876027.1:n.644-7566A>C | |
| NM_001366624.2:c.*74T>G (CLN5) | NP_001353553.1:n.*74T>G | |
| NM_006493.4:c.625T>G (CLN5) MANE Select | NP_006484.2:p.Tyr209Asp |