Linked Data
ClinVar Variation Id:
240660
dbSNP Id:
rs199609750
ExAC:
13:77574839 A / G
gnomAD v2:
13-77574839-A-G
gnomAD v3:
13-77000704-A-G
gnomAD v4:
13-77000704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000704A>G , CM000675.2:g.77000704A>G | GRCh38 |
| NC_000013.10:g.77574839A>G , CM000675.1:g.77574839A>G | GRCh37 |
| NC_000013.9:g.76472840A>G | NCBI36 |
| NG_009064.1:g.13781A>G , LRG_692:g.13781A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.812A>G (CLN5) MANE Select | ENSP00000366673.5:p.Asn271Ser | |
| ENST00000616833.6:c.*254A>G (CLN5) | ENSP00000479547.3:n.*254A>G | |
| ENST00000635838.1:c.174+4577A>G | ||
| ENST00000635905.1:n.566+4577A>G (CLN5) | ||
| ENST00000635915.1:c.810A>G (CLN5) | ||
| ENST00000636183.2:c.812A>G (CLN5) | ENSP00000490181.2:p.Asn271Ser | |
| ENST00000636525.2:c.565+4577A>G (CLN5) | ENSP00000490078.2:n.565+4577A>G | |
| ENST00000636681.1:c.*503A>G (CLN5) | ENSP00000489922.1:n.*503A>G | |
| ENST00000636705.1:c.648A>G (CLN5) | ||
| ENST00000636767.2:c.565+4577A>G (CLN5) | ENSP00000489855.2:n.565+4577A>G | |
| ENST00000636780.2:c.*261A>G (CLN5) | ENSP00000489809.2:n.*261A>G | |
| ENST00000637192.1:c.213+4577A>G | ||
| ENST00000637278.1:n.1138A>G (CLN5) | ||
| ENST00000637397.2:c.565+4577A>G (CLN5) | ENSP00000490422.2:n.565+4577A>G | |
| ENST00000638101.1:c.169+4577A>G | ENSP00000490535.1:n.169+4577A>G | |
| ENST00000638147.2:c.565+4577A>G | ENSP00000490953.2:n.565+4577A>G | |
| ENST00000377453.7:c.959A>G (CLN5) | ENSP00000366673.3:p.Asn320Ser | |
| ENST00000477982.2:n.1605T>C (FBXL3) | ||
| ENST00000485797.2:n.174-7753T>C (FBXL3) | ||
| ENST00000616833.4:c.812A>G (CLN5) | ENSP00000479547.1:p.Asn271Ser | |
| NM_006493.2:c.959A>G , LRG_692t1:c.959A>G (CLN5) | NP_006484.1:p.Asn320Ser | |
| XM_011534917.1:c.*261A>G (CLN5) | XP_011533219.1:n.*261A>G | |
| NM_001366624.1:c.*261A>G (CLN5) | NP_001353553.1:n.*261A>G | |
| NM_006493.3:c.812A>G (CLN5) | NP_006484.2:p.Asn271Ser | |
| XM_017020538.2:c.644-7753T>C (FBXL3) | XP_016876027.1:n.644-7753T>C | |
| NM_001366624.2:c.*261A>G (CLN5) | NP_001353553.1:n.*261A>G | |
| NM_006493.4:c.812A>G (CLN5) MANE Select | NP_006484.2:p.Asn271Ser |