Linked Data
ClinVar Variation Id:
555717
ClinVar RCV Id:
RCV000671586
dbSNP Id:
rs1487063543
gnomAD v2:
11-118896050-C-T
gnomAD v3:
11-119025340-C-T
gnomAD v4:
11-119025340-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025340C>T , CM000673.2:g.119025340C>T | GRCh38 |
| NC_000011.9:g.118896050C>T , CM000673.1:g.118896050C>T | GRCh37 |
| NC_000011.8:g.118401260C>T | NCBI36 |
| NG_013331.1:g.10566G>A , LRG_187:g.10566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1195-11G>A (SLC37A4) | ||
| ENST00000697845.1:n.2184-11G>A (SLC37A4) | ||
| ENST00000697846.1:n.1546G>A (SLC37A4) | ||
| ENST00000697847.1:n.1268-11G>A (SLC37A4) | ||
| ENST00000697849.1:n.3650G>A (SLC37A4) | ||
| ENST00000697850.1:n.1841G>A (SLC37A4) | ||
| ENST00000697851.1:n.2823-11G>A (SLC37A4) | ||
| ENST00000638186.1:n.1289-11G>A (SLC37A4) | ||
| ENST00000638360.1:n.1121-11G>A (SLC37A4) | ||
| ENST00000638925.1:n.1254-11G>A (SLC37A4) | ||
| ENST00000650539.1:n.1457-11G>A (SLC37A4) | ||
| ENST00000330775.9:c.985-11G>A (SLC37A4) | ENSP00000476242.2:n.985-11G>A | |
| ENST00000357590.9:c.1051-11G>A (SLC37A4) | ENSP00000476176.2:n.1051-11G>A | |
| ENST00000524428.5:n.1221-11G>A (SLC37A4) | ||
| ENST00000525039.5:n.1475-11G>A (SLC37A4) | ||
| ENST00000525102.5:n.1743-11G>A (SLC37A4) | ||
| ENST00000525372.5:n.1083-11G>A (SLC37A4) | ||
| ENST00000526275.5:n.1767-11G>A (SLC37A4) | ||
| ENST00000527992.5:n.1213-11G>A (SLC37A4) | ||
| ENST00000529510.5:n.673-11G>A (SLC37A4) | ||
| ENST00000530407.5:n.1135-11G>A (SLC37A4) | ||
| ENST00000532085.1:n.4992G>A (SLC37A4) | ||
| ENST00000533058.5:c.*291C>T (TRAPPC4) | ENSP00000432920.1:n.*291C>T | |
| ENST00000538950.5:c.766-11G>A (SLC37A4) | ENSP00000475991.2:n.766-11G>A | |
| ENST00000545985.5:c.985-11G>A (SLC37A4) | ENSP00000475241.2:n.985-11G>A | |
| NM_001164277.1:c.985-11G>A , LRG_187t1:c.985-11G>A (SLC37A4) | NP_001157749.1:n.985-11G>A | |
| NM_001164278.1:c.1051-11G>A (SLC37A4) | NP_001157750.1:n.1051-11G>A | |
| NM_001164279.1:c.766-11G>A (SLC37A4) | NP_001157751.1:n.766-11G>A | |
| NM_001164280.1:c.985-11G>A (SLC37A4) | NP_001157752.1:n.985-11G>A | |
| NM_001467.5:c.985-11G>A (SLC37A4) | NP_001458.1:n.985-11G>A | |
| NM_001164278.2:c.1051-11G>A (SLC37A4) | NP_001157750.1:n.1051-11G>A | |
| NM_001164279.2:c.766-11G>A (SLC37A4) | NP_001157751.1:n.766-11G>A | |
| NM_001164280.2:c.985-11G>A (SLC37A4) | NP_001157752.1:n.985-11G>A | |
| NM_001467.6:c.985-11G>A (SLC37A4) | NP_001458.1:n.985-11G>A | |
| NM_001164277.2:c.985-11G>A (SLC37A4) MANE Select | NP_001157749.1:n.985-11G>A |