Linked Data
ClinVar Variation Id:
766653
ClinVar RCV Id:
RCV001489294
dbSNP Id:
rs1593911173
gnomAD v4:
13-76996051-T-C
MyVariant Identifiers:
chr13:g.77570186T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76996051T>C , CM000675.2:g.76996051T>C | GRCh38 |
| NC_000013.10:g.77570186T>C , CM000675.1:g.77570186T>C | GRCh37 |
| NC_000013.9:g.76468187T>C | NCBI36 |
| NG_009064.1:g.9128T>C , LRG_692:g.9128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.489T>C (CLN5) MANE Select | ENSP00000366673.5:p.Ala163= | |
| ENST00000485938.4:c.489T>C (CLN5) | ENSP00000482959.3:p.Ala163= | |
| ENST00000616833.6:c.489T>C (CLN5) | ENSP00000479547.3:p.Ala163= | |
| ENST00000635838.1:c.98T>C | ||
| ENST00000635905.1:n.490T>C (CLN5) | ||
| ENST00000635915.1:c.487T>C (CLN5) | ||
| ENST00000635989.1:n.556T>C (CLN5) | ||
| ENST00000636183.2:c.489T>C (CLN5) | ENSP00000490181.2:p.Ala163= | |
| ENST00000636520.1:n.2001T>C (CLN5) | ||
| ENST00000636525.2:c.489T>C (CLN5) | ENSP00000490078.2:p.Ala163= | |
| ENST00000636602.1:n.435T>C (CLN5) | ||
| ENST00000636681.1:c.*180T>C (CLN5) | ENSP00000489922.1:n.*180T>C | |
| ENST00000636705.1:c.325T>C (CLN5) | ||
| ENST00000636767.2:c.489T>C (CLN5) | ENSP00000489855.2:p.Ala163= | |
| ENST00000636780.2:c.489T>C (CLN5) | ENSP00000489809.2:p.Ala163= | |
| ENST00000637192.1:c.137T>C | ||
| ENST00000637278.1:n.815T>C (CLN5) | ||
| ENST00000637397.2:c.489T>C (CLN5) | ENSP00000490422.2:p.Ala163= | |
| ENST00000637537.2:c.489T>C (CLN5) | ENSP00000489711.2:p.Ala163= | |
| ENST00000638101.1:c.93T>C | ENSP00000490535.1:p.Ala31= | |
| ENST00000638147.2:c.489T>C | ENSP00000490953.2:p.Ala163= | |
| ENST00000377453.7:c.636T>C (CLN5) | ENSP00000366673.3:p.Ala212= | |
| ENST00000485797.2:n.174-3100A>G (FBXL3) | ||
| ENST00000485938.2:c.472T>C (CLN5) | ||
| ENST00000616833.4:c.489T>C (CLN5) | ENSP00000479547.1:p.Ala163= | |
| NM_006493.2:c.636T>C , LRG_692t1:c.636T>C (CLN5) | NP_006484.1:p.Ala212= | |
| XM_011534917.1:c.636T>C (CLN5) | XP_011533219.1:p.Ala212= | |
| NM_001366624.1:c.489T>C (CLN5) | NP_001353553.1:p.Ala163= | |
| NM_006493.3:c.489T>C (CLN5) | NP_006484.2:p.Ala163= | |
| XM_017020538.2:c.644-3100A>G (FBXL3) | XP_016876027.1:n.644-3100A>G | |
| NM_001366624.2:c.489T>C (CLN5) | NP_001353553.1:p.Ala163= | |
| NM_006493.4:c.489T>C (CLN5) MANE Select | NP_006484.2:p.Ala163= |