Linked Data
dbSNP Id:
rs777540475
ExAC:
13:77570003 C / T
gnomAD v2:
13-77570003-C-T
gnomAD v4:
13-76995868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995868C>T , CM000675.2:g.76995868C>T | GRCh38 |
| NC_000013.10:g.77570003C>T , CM000675.1:g.77570003C>T | GRCh37 |
| NC_000013.9:g.76468004C>T | NCBI36 |
| NG_009064.1:g.8945C>T , LRG_692:g.8945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.340-34C>T (CLN5) MANE Select | ENSP00000366673.5:n.340-34C>T | |
| ENST00000485938.4:c.340-34C>T (CLN5) | ENSP00000482959.3:n.340-34C>T | |
| ENST00000616833.6:c.340-34C>T (CLN5) | ENSP00000479547.3:n.340-34C>T | |
| ENST00000635905.1:n.341-34C>T (CLN5) | ||
| ENST00000635915.1:c.304C>T (CLN5) | ||
| ENST00000635989.1:n.407-34C>T (CLN5) | ||
| ENST00000636183.2:c.340-34C>T (CLN5) | ENSP00000490181.2:n.340-34C>T | |
| ENST00000636520.1:n.1818C>T (CLN5) | ||
| ENST00000636525.2:c.340-34C>T (CLN5) | ENSP00000490078.2:n.340-34C>T | |
| ENST00000636602.1:n.286-34C>T (CLN5) | ||
| ENST00000636681.1:c.*31-34C>T (CLN5) | ENSP00000489922.1:n.*31-34C>T | |
| ENST00000636705.1:c.176-34C>T (CLN5) | ||
| ENST00000636767.2:c.340-34C>T (CLN5) | ENSP00000489855.2:n.340-34C>T | |
| ENST00000636780.2:c.340-34C>T (CLN5) | ENSP00000489809.2:n.340-34C>T | |
| ENST00000637278.1:n.632C>T (CLN5) | ||
| ENST00000637397.2:c.340-34C>T (CLN5) | ENSP00000490422.2:n.340-34C>T | |
| ENST00000637537.2:c.340-34C>T (CLN5) | ENSP00000489711.2:n.340-34C>T | |
| ENST00000638147.2:c.340-34C>T | ENSP00000490953.2:n.340-34C>T | |
| ENST00000377453.7:c.487-34C>T (CLN5) | ENSP00000366673.3:n.487-34C>T | |
| ENST00000485797.2:n.174-2917G>A (FBXL3) | ||
| ENST00000485938.2:c.323-34C>T (CLN5) | ||
| ENST00000616833.4:c.340-34C>T (CLN5) | ENSP00000479547.1:n.340-34C>T | |
| NM_006493.2:c.487-34C>T , LRG_692t1:c.487-34C>T (CLN5) | NP_006484.1:n.487-34C>T | |
| XM_011534917.1:c.487-34C>T (CLN5) | XP_011533219.1:n.487-34C>T | |
| NM_001366624.1:c.340-34C>T (CLN5) | NP_001353553.1:n.340-34C>T | |
| NM_006493.3:c.340-34C>T (CLN5) | NP_006484.2:n.340-34C>T | |
| XM_017020538.2:c.644-2917G>A (FBXL3) | XP_016876027.1:n.644-2917G>A | |
| NM_001366624.2:c.340-34C>T (CLN5) | NP_001353553.1:n.340-34C>T | |
| NM_006493.4:c.340-34C>T (CLN5) MANE Select | NP_006484.2:n.340-34C>T |