Revel Score:
ENST00000376238 (MANE Select)
0.139
ENST00000537648
0.139
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84285454T>C , CM000671.2:g.84285454T>C | GRCh38 |
| NC_000009.11:g.86900369T>C , CM000671.1:g.86900369T>C | GRCh37 |
| NC_000009.10:g.86090189T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376238.5:c.1538A>G (SLC28A3) MANE Select | ENSP00000365413.4:p.Tyr513Cys | |
| ENST00000376238.4:c.1538A>G (SLC28A3) | ENSP00000365413.4:p.Tyr513Cys | |
| NM_001199633.1:c.1538A>G (SLC28A3) | NP_001186562.1:p.Tyr513Cys | |
| NM_022127.2:c.1538A>G (SLC28A3) | NP_071410.1:p.Tyr513Cys | |
| NR_037638.2:n.1860A>G (SLC28A3) | ||
| XM_011518905.1:c.1622A>G (SLC28A3) | XP_011517207.1:p.Tyr541Cys | |
| XM_011518906.1:c.1622A>G (SLC28A3) | XP_011517208.1:p.Tyr541Cys | |
| XM_011518907.1:c.1289A>G (SLC28A3) | XP_011517209.1:p.Tyr430Cys | |
| XM_011518908.1:c.899A>G (SLC28A3) | XP_011517210.1:p.Tyr300Cys | |
| XR_929832.1:n.1729A>G (SLC28A3) | ||
| XR_930033.1:n.88-3588T>C (SLC28A3-AS1) | ||
| XM_011518905.2:c.1622A>G (SLC28A3) | XP_011517207.1:p.Tyr541Cys | |
| XM_011518906.2:c.1622A>G (SLC28A3) | XP_011517208.1:p.Tyr541Cys | |
| XM_011518907.2:c.1289A>G (SLC28A3) | XP_011517209.1:p.Tyr430Cys | |
| XM_011518908.2:c.899A>G (SLC28A3) | XP_011517210.1:p.Tyr300Cys | |
| XR_001746802.1:n.231-4486T>C (SLC28A3-AS1) | ||
| XR_001746803.1:n.85-3588T>C (SLC28A3-AS1) | ||
| XR_929832.2:n.1734A>G (SLC28A3) | ||
| NM_001199633.2:c.1538A>G (SLC28A3) MANE Select | NP_001186562.1:p.Tyr513Cys | |
| NM_022127.3:c.1538A>G (SLC28A3) | NP_071410.1:p.Tyr513Cys | |
| NR_037638.3:n.1839A>G (SLC28A3) |