Linked Data
dbSNP Id:
rs782017316
ExAC:
11:118895532 G / A
gnomAD v2:
11-118895532-G-A
gnomAD v4:
11-119024822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024822G>A , CM000673.2:g.119024822G>A | GRCh38 |
| NC_000011.9:g.118895532G>A , CM000673.1:g.118895532G>A | GRCh37 |
| NC_000011.8:g.118400742G>A | NCBI36 |
| NG_013331.1:g.11084C>T , LRG_187:g.11084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1588C>T (SLC37A4) | ||
| ENST00000697845.1:n.2577C>T (SLC37A4) | ||
| ENST00000697846.1:n.1950C>T (SLC37A4) | ||
| ENST00000697847.1:n.1661C>T (SLC37A4) | ||
| ENST00000697849.1:n.4054C>T (SLC37A4) | ||
| ENST00000697850.1:n.2245C>T (SLC37A4) | ||
| ENST00000697851.1:n.3216C>T (SLC37A4) | ||
| ENST00000638186.1:n.1682C>T (SLC37A4) | ||
| ENST00000638360.1:n.1514C>T (SLC37A4) | ||
| ENST00000638925.1:n.1647C>T (SLC37A4) | ||
| ENST00000650539.1:n.1850C>T (SLC37A4) | ||
| ENST00000330775.9:c.*88C>T (SLC37A4) | ENSP00000476242.2:n.*88C>T | |
| ENST00000357590.9:c.*88C>T (SLC37A4) | ENSP00000476176.2:n.*88C>T | |
| ENST00000525102.5:n.2136C>T (SLC37A4) | ||
| ENST00000526275.5:n.2160C>T (SLC37A4) | ||
| ENST00000527992.5:n.1606C>T (SLC37A4) | ||
| ENST00000532085.1:n.5396C>T (SLC37A4) | ||
| ENST00000533058.5:c.582-35G>A (TRAPPC4) | ENSP00000432920.1:n.582-35G>A | |
| ENST00000538950.5:c.*88C>T (SLC37A4) | ENSP00000475991.2:n.*88C>T | |
| ENST00000545985.5:c.*88C>T (SLC37A4) | ENSP00000475241.2:n.*88C>T | |
| NM_001164277.1:c.*88C>T , LRG_187t1:c.*88C>T (SLC37A4) | NP_001157749.1:n.*88C>T | |
| NM_001164278.1:c.*88C>T (SLC37A4) | NP_001157750.1:n.*88C>T | |
| NM_001164279.1:c.*88C>T (SLC37A4) | NP_001157751.1:n.*88C>T | |
| NM_001164280.1:c.*88C>T (SLC37A4) | NP_001157752.1:n.*88C>T | |
| NM_001467.5:c.*88C>T (SLC37A4) | NP_001458.1:n.*88C>T | |
| NM_001164278.2:c.*88C>T (SLC37A4) | NP_001157750.1:n.*88C>T | |
| NM_001164279.2:c.*88C>T (SLC37A4) | NP_001157751.1:n.*88C>T | |
| NM_001164280.2:c.*88C>T (SLC37A4) | NP_001157752.1:n.*88C>T | |
| NM_001467.6:c.*88C>T (SLC37A4) | NP_001458.1:n.*88C>T | |
| NM_001164277.2:c.*88C>T (SLC37A4) MANE Select | NP_001157749.1:n.*88C>T |