Linked Data
ClinVar Variation Id:
302705
ClinVar RCV Id:
RCV000336643
dbSNP Id:
rs886047749
gnomAD v2:
11-118895905-G-A
gnomAD v4:
11-119025195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025195G>A , CM000673.2:g.119025195G>A | GRCh38 |
| NC_000011.9:g.118895905G>A , CM000673.1:g.118895905G>A | GRCh37 |
| NC_000011.8:g.118401115G>A | NCBI36 |
| NG_013331.1:g.10711C>T , LRG_187:g.10711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1329C>T (SLC37A4) | ||
| ENST00000697845.1:n.2318C>T (SLC37A4) | ||
| ENST00000697846.1:n.1691C>T (SLC37A4) | ||
| ENST00000697847.1:n.1402C>T (SLC37A4) | ||
| ENST00000697849.1:n.3795C>T (SLC37A4) | ||
| ENST00000697850.1:n.1986C>T (SLC37A4) | ||
| ENST00000697851.1:n.2957C>T (SLC37A4) | ||
| ENST00000638186.1:n.1423C>T (SLC37A4) | ||
| ENST00000638360.1:n.1255C>T (SLC37A4) | ||
| ENST00000638925.1:n.1388C>T (SLC37A4) | ||
| ENST00000650539.1:n.1591C>T (SLC37A4) | ||
| ENST00000330775.9:c.1119C>T (SLC37A4) | ENSP00000476242.2:p.Ala373= | |
| ENST00000357590.9:c.1185C>T (SLC37A4) | ENSP00000476176.2:p.Ala395= | |
| ENST00000524428.5:n.1355C>T (SLC37A4) | ||
| ENST00000525039.5:n.1609C>T (SLC37A4) | ||
| ENST00000525102.5:n.1877C>T (SLC37A4) | ||
| ENST00000525372.5:n.1217C>T (SLC37A4) | ||
| ENST00000526275.5:n.1901C>T (SLC37A4) | ||
| ENST00000527992.5:n.1347C>T (SLC37A4) | ||
| ENST00000529510.5:n.807C>T (SLC37A4) | ||
| ENST00000530407.5:n.1269C>T (SLC37A4) | ||
| ENST00000532085.1:n.5137C>T (SLC37A4) | ||
| ENST00000533058.5:c.*146G>A (TRAPPC4) | ENSP00000432920.1:n.*146G>A | |
| ENST00000538950.5:c.900C>T (SLC37A4) | ENSP00000475991.2:p.Ala300= | |
| ENST00000545985.5:c.1119C>T (SLC37A4) | ENSP00000475241.2:p.Ala373= | |
| NM_001164277.1:c.1119C>T , LRG_187t1:c.1119C>T (SLC37A4) | NP_001157749.1:p.Ala373= | |
| NM_001164278.1:c.1185C>T (SLC37A4) | NP_001157750.1:p.Ala395= | |
| NM_001164279.1:c.900C>T (SLC37A4) | NP_001157751.1:p.Ala300= | |
| NM_001164280.1:c.1119C>T (SLC37A4) | NP_001157752.1:p.Ala373= | |
| NM_001467.5:c.1119C>T (SLC37A4) | NP_001458.1:p.Ala373= | |
| NM_001164278.2:c.1185C>T (SLC37A4) | NP_001157750.1:p.Ala395= | |
| NM_001164279.2:c.900C>T (SLC37A4) | NP_001157751.1:p.Ala300= | |
| NM_001164280.2:c.1119C>T (SLC37A4) | NP_001157752.1:p.Ala373= | |
| NM_001467.6:c.1119C>T (SLC37A4) | NP_001458.1:p.Ala373= | |
| NM_001164277.2:c.1119C>T (SLC37A4) MANE Select | NP_001157749.1:p.Ala373= |