Linked Data
ClinVar Variation Id:
302702
ClinVar RCV Id:
RCV000331320
dbSNP Id:
rs564775174
ExAC:
11:118895589 G / A
gnomAD v2:
11-118895589-G-A
gnomAD v3:
11-119024879-G-A
gnomAD v4:
11-119024879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024879G>A , CM000673.2:g.119024879G>A | GRCh38 |
| NC_000011.9:g.118895589G>A , CM000673.1:g.118895589G>A | GRCh37 |
| NC_000011.8:g.118400799G>A | NCBI36 |
| NG_013331.1:g.11027C>T , LRG_187:g.11027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1531C>T (SLC37A4) | ||
| ENST00000697845.1:n.2520C>T (SLC37A4) | ||
| ENST00000697846.1:n.1893C>T (SLC37A4) | ||
| ENST00000697847.1:n.1604C>T (SLC37A4) | ||
| ENST00000697849.1:n.3997C>T (SLC37A4) | ||
| ENST00000697850.1:n.2188C>T (SLC37A4) | ||
| ENST00000697851.1:n.3159C>T (SLC37A4) | ||
| ENST00000638186.1:n.1625C>T (SLC37A4) | ||
| ENST00000638360.1:n.1457C>T (SLC37A4) | ||
| ENST00000638925.1:n.1590C>T (SLC37A4) | ||
| ENST00000650539.1:n.1793C>T (SLC37A4) | ||
| ENST00000330775.9:c.*31C>T (SLC37A4) | ENSP00000476242.2:n.*31C>T | |
| ENST00000357590.9:c.*31C>T (SLC37A4) | ENSP00000476176.2:n.*31C>T | |
| ENST00000525102.5:n.2079C>T (SLC37A4) | ||
| ENST00000526275.5:n.2103C>T (SLC37A4) | ||
| ENST00000527992.5:n.1549C>T (SLC37A4) | ||
| ENST00000530407.5:n.1471C>T (SLC37A4) | ||
| ENST00000532085.1:n.5339C>T (SLC37A4) | ||
| ENST00000533058.5:c.604G>A (TRAPPC4) | ENSP00000432920.1:p.Val202Met | |
| ENST00000538950.5:c.*31C>T (SLC37A4) | ENSP00000475991.2:n.*31C>T | |
| ENST00000545985.5:c.*31C>T (SLC37A4) | ENSP00000475241.2:n.*31C>T | |
| NM_001164277.1:c.*31C>T , LRG_187t1:c.*31C>T (SLC37A4) | NP_001157749.1:n.*31C>T | |
| NM_001164278.1:c.*31C>T (SLC37A4) | NP_001157750.1:n.*31C>T | |
| NM_001164279.1:c.*31C>T (SLC37A4) | NP_001157751.1:n.*31C>T | |
| NM_001164280.1:c.*31C>T (SLC37A4) | NP_001157752.1:n.*31C>T | |
| NM_001467.5:c.*31C>T (SLC37A4) | NP_001458.1:n.*31C>T | |
| NM_001164278.2:c.*31C>T (SLC37A4) | NP_001157750.1:n.*31C>T | |
| NM_001164279.2:c.*31C>T (SLC37A4) | NP_001157751.1:n.*31C>T | |
| NM_001164280.2:c.*31C>T (SLC37A4) | NP_001157752.1:n.*31C>T | |
| NM_001467.6:c.*31C>T (SLC37A4) | NP_001458.1:n.*31C>T | |
| NM_001164277.2:c.*31C>T (SLC37A4) MANE Select | NP_001157749.1:n.*31C>T |