Linked Data
ClinVar Variation Id:
6935
dbSNP Id:
rs121908980
gnomAD v4:
11-119025298-C-T
PubMed:
PMID:10931421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025298C>T , CM000673.2:g.119025298C>T | GRCh38 |
| NC_000011.9:g.118896008C>T , CM000673.1:g.118896008C>T | GRCh37 |
| NC_000011.8:g.118401218C>T | NCBI36 |
| NG_013331.1:g.10608G>A , LRG_187:g.10608G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1226G>A (SLC37A4) | ||
| ENST00000697845.1:n.2215G>A (SLC37A4) | ||
| ENST00000697846.1:n.1588G>A (SLC37A4) | ||
| ENST00000697847.1:n.1299G>A (SLC37A4) | ||
| ENST00000697849.1:n.3692G>A (SLC37A4) | ||
| ENST00000697850.1:n.1883G>A (SLC37A4) | ||
| ENST00000697851.1:n.2854G>A (SLC37A4) | ||
| ENST00000638186.1:n.1320G>A (SLC37A4) | ||
| ENST00000638360.1:n.1152G>A (SLC37A4) | ||
| ENST00000638925.1:n.1285G>A (SLC37A4) | ||
| ENST00000650539.1:n.1488G>A (SLC37A4) | ||
| ENST00000330775.9:c.1016G>A (SLC37A4) | ENSP00000476242.2:p.Gly339Asp | |
| ENST00000357590.9:c.1082G>A (SLC37A4) | ENSP00000476176.2:p.Gly361Asp | |
| ENST00000524428.5:n.1252G>A (SLC37A4) | ||
| ENST00000525039.5:n.1506G>A (SLC37A4) | ||
| ENST00000525102.5:n.1774G>A (SLC37A4) | ||
| ENST00000525372.5:n.1114G>A (SLC37A4) | ||
| ENST00000526275.5:n.1798G>A (SLC37A4) | ||
| ENST00000527992.5:n.1244G>A (SLC37A4) | ||
| ENST00000529510.5:n.704G>A (SLC37A4) | ||
| ENST00000530407.5:n.1166G>A (SLC37A4) | ||
| ENST00000532085.1:n.5034G>A (SLC37A4) | ||
| ENST00000533058.5:c.*249C>T (TRAPPC4) | ENSP00000432920.1:n.*249C>T | |
| ENST00000538950.5:c.797G>A (SLC37A4) | ENSP00000475991.2:p.Gly266Asp | |
| ENST00000545985.5:c.1016G>A (SLC37A4) | ENSP00000475241.2:p.Gly339Asp | |
| NM_001164277.1:c.1016G>A , LRG_187t1:c.1016G>A (SLC37A4) | NP_001157749.1:p.Gly339Asp | |
| NM_001164278.1:c.1082G>A (SLC37A4) | NP_001157750.1:p.Gly361Asp | |
| NM_001164279.1:c.797G>A (SLC37A4) | NP_001157751.1:p.Gly266Asp | |
| NM_001164280.1:c.1016G>A (SLC37A4) | NP_001157752.1:p.Gly339Asp | |
| NM_001467.5:c.1016G>A (SLC37A4) | NP_001458.1:p.Gly339Asp | |
| NM_001164278.2:c.1082G>A (SLC37A4) | NP_001157750.1:p.Gly361Asp | |
| NM_001164279.2:c.797G>A (SLC37A4) | NP_001157751.1:p.Gly266Asp | |
| NM_001164280.2:c.1016G>A (SLC37A4) | NP_001157752.1:p.Gly339Asp | |
| NM_001467.6:c.1016G>A (SLC37A4) | NP_001458.1:p.Gly339Asp | |
| NM_001164277.2:c.1016G>A (SLC37A4) MANE Select | NP_001157749.1:p.Gly339Asp |