Linked Data
ClinVar Variation Id:
1240619
ClinVar RCV Id:
RCV001641007
dbSNP Id:
rs67836242
gnomAD v2:
13-77574496-G-A
gnomAD v3:
13-77000361-G-A
gnomAD v4:
13-77000361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000361G>A , CM000675.2:g.77000361G>A | GRCh38 |
| NC_000013.10:g.77574496G>A , CM000675.1:g.77574496G>A | GRCh37 |
| NC_000013.9:g.76472497G>A | NCBI36 |
| NG_009064.1:g.13438G>A , LRG_692:g.13438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.566-97G>A (CLN5) MANE Select | ENSP00000366673.5:n.566-97G>A | |
| ENST00000616833.6:c.*8-97G>A (CLN5) | ENSP00000479547.3:n.*8-97G>A | |
| ENST00000635761.1:n.527G>A (CLN5) | ||
| ENST00000635838.1:c.174+4234G>A | ||
| ENST00000635905.1:n.566+4234G>A (CLN5) | ||
| ENST00000635915.1:c.564-97G>A (CLN5) | ||
| ENST00000636183.2:c.566-97G>A (CLN5) | ENSP00000490181.2:n.566-97G>A | |
| ENST00000636525.2:c.565+4234G>A (CLN5) | ENSP00000490078.2:n.565+4234G>A | |
| ENST00000636681.1:c.*257-97G>A (CLN5) | ENSP00000489922.1:n.*257-97G>A | |
| ENST00000636705.1:c.402-97G>A (CLN5) | ||
| ENST00000636767.2:c.565+4234G>A (CLN5) | ENSP00000489855.2:n.565+4234G>A | |
| ENST00000636780.2:c.*15-97G>A (CLN5) | ENSP00000489809.2:n.*15-97G>A | |
| ENST00000637192.1:c.213+4234G>A | ||
| ENST00000637278.1:n.892-97G>A (CLN5) | ||
| ENST00000637397.2:c.565+4234G>A (CLN5) | ENSP00000490422.2:n.565+4234G>A | |
| ENST00000638101.1:c.169+4234G>A | ENSP00000490535.1:n.169+4234G>A | |
| ENST00000638147.2:c.565+4234G>A | ENSP00000490953.2:n.565+4234G>A | |
| ENST00000377453.7:c.713-97G>A (CLN5) | ENSP00000366673.3:n.713-97G>A | |
| ENST00000477982.2:n.1948C>T (FBXL3) | ||
| ENST00000485797.2:n.174-7410C>T (FBXL3) | ||
| ENST00000616833.4:c.566-97G>A (CLN5) | ENSP00000479547.1:n.566-97G>A | |
| NM_006493.2:c.713-97G>A , LRG_692t1:c.713-97G>A (CLN5) | NP_006484.1:n.713-97G>A | |
| XM_011534917.1:c.*15-97G>A (CLN5) | XP_011533219.1:n.*15-97G>A | |
| NM_001366624.1:c.*15-97G>A (CLN5) | NP_001353553.1:n.*15-97G>A | |
| NM_006493.3:c.566-97G>A (CLN5) | NP_006484.2:n.566-97G>A | |
| XM_017020538.2:c.644-7410C>T (FBXL3) | XP_016876027.1:n.644-7410C>T | |
| NM_001366624.2:c.*15-97G>A (CLN5) | NP_001353553.1:n.*15-97G>A | |
| NM_006493.4:c.566-97G>A (CLN5) MANE Select | NP_006484.2:n.566-97G>A |