Linked Data
dbSNP Id:
rs146655803
ExAC:
11:118896087 G / A
gnomAD v2:
11-118896087-G-A
gnomAD v3:
11-119025377-G-A
gnomAD v4:
11-119025377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025377G>A , CM000673.2:g.119025377G>A | GRCh38 |
| NC_000011.9:g.118896087G>A , CM000673.1:g.118896087G>A | GRCh37 |
| NC_000011.8:g.118401297G>A | NCBI36 |
| NG_013331.1:g.10529C>T , LRG_187:g.10529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1195-48C>T (SLC37A4) | ||
| ENST00000697845.1:n.2184-48C>T (SLC37A4) | ||
| ENST00000697846.1:n.1509C>T (SLC37A4) | ||
| ENST00000697847.1:n.1268-48C>T (SLC37A4) | ||
| ENST00000697849.1:n.3613C>T (SLC37A4) | ||
| ENST00000697850.1:n.1804C>T (SLC37A4) | ||
| ENST00000697851.1:n.2823-48C>T (SLC37A4) | ||
| ENST00000638186.1:n.1289-48C>T (SLC37A4) | ||
| ENST00000638360.1:n.1121-48C>T (SLC37A4) | ||
| ENST00000638925.1:n.1254-48C>T (SLC37A4) | ||
| ENST00000650539.1:n.1457-48C>T (SLC37A4) | ||
| ENST00000330775.9:c.985-48C>T (SLC37A4) | ENSP00000476242.2:n.985-48C>T | |
| ENST00000357590.9:c.1051-48C>T (SLC37A4) | ENSP00000476176.2:n.1051-48C>T | |
| ENST00000524428.5:n.1221-48C>T (SLC37A4) | ||
| ENST00000525039.5:n.1475-48C>T (SLC37A4) | ||
| ENST00000525102.5:n.1743-48C>T (SLC37A4) | ||
| ENST00000525372.5:n.1083-48C>T (SLC37A4) | ||
| ENST00000526275.5:n.1767-48C>T (SLC37A4) | ||
| ENST00000527992.5:n.1213-48C>T (SLC37A4) | ||
| ENST00000529510.5:n.673-48C>T (SLC37A4) | ||
| ENST00000530407.5:n.1135-48C>T (SLC37A4) | ||
| ENST00000532085.1:n.4955C>T (SLC37A4) | ||
| ENST00000533058.5:c.*328G>A (TRAPPC4) | ENSP00000432920.1:n.*328G>A | |
| ENST00000538950.5:c.766-48C>T (SLC37A4) | ENSP00000475991.2:n.766-48C>T | |
| ENST00000545985.5:c.985-48C>T (SLC37A4) | ENSP00000475241.2:n.985-48C>T | |
| NM_001164277.1:c.985-48C>T , LRG_187t1:c.985-48C>T (SLC37A4) | NP_001157749.1:n.985-48C>T | |
| NM_001164278.1:c.1051-48C>T (SLC37A4) | NP_001157750.1:n.1051-48C>T | |
| NM_001164279.1:c.766-48C>T (SLC37A4) | NP_001157751.1:n.766-48C>T | |
| NM_001164280.1:c.985-48C>T (SLC37A4) | NP_001157752.1:n.985-48C>T | |
| NM_001467.5:c.985-48C>T (SLC37A4) | NP_001458.1:n.985-48C>T | |
| NM_001164278.2:c.1051-48C>T (SLC37A4) | NP_001157750.1:n.1051-48C>T | |
| NM_001164279.2:c.766-48C>T (SLC37A4) | NP_001157751.1:n.766-48C>T | |
| NM_001164280.2:c.985-48C>T (SLC37A4) | NP_001157752.1:n.985-48C>T | |
| NM_001467.6:c.985-48C>T (SLC37A4) | NP_001458.1:n.985-48C>T | |
| NM_001164277.2:c.985-48C>T (SLC37A4) MANE Select | NP_001157749.1:n.985-48C>T |