Linked Data
dbSNP Id:
rs778316676
ExAC:
17:6590923 A / C
gnomAD v2:
17-6590923-A-C
gnomAD v4:
17-6687604-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6687604A>C , CM000679.2:g.6687604A>C | GRCh38 |
| NC_000017.10:g.6590923A>C , CM000679.1:g.6590923A>C | GRCh37 |
| NC_000017.9:g.6531647A>C | NCBI36 |
| NG_034220.1:g.30818T>G , LRG_1020:g.30818T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1500T>G (SLC13A5) MANE Select | ENSP00000406220.2:p.Phe500Leu | |
| ENST00000635042.1:n.725-5261A>C (C17orf100) | ||
| ENST00000293800.10:c.1449T>G (SLC13A5) | ENSP00000293800.6:p.Phe483Leu | |
| ENST00000381074.8:c.1371T>G (SLC13A5) | ENSP00000370464.4:p.Phe457Leu | |
| ENST00000433363.6:c.1500T>G (SLC13A5) | ENSP00000406220.2:p.Phe500Leu | |
| ENST00000570687.1:c.169T>G (SLC13A5) | ||
| ENST00000573648.5:c.1438-1266T>G (SLC13A5) | ENSP00000459372.1:n.1438-1266T>G | |
| ENST00000574580.2:n.2517T>G (SLC13A5) | ||
| ENST00000634558.1:n.511-2272A>C (ALOX15P1) | ||
| ENST00000634823.1:n.265-5261A>C (ALOX15P1) | ||
| NM_001143838.2:c.1438-1266T>G (SLC13A5) | NP_001137310.1:n.1438-1266T>G | |
| NM_001284509.1:c.1449T>G (SLC13A5) | NP_001271438.1:p.Phe483Leu | |
| NM_001284510.1:c.1371T>G (SLC13A5) | NP_001271439.1:p.Phe457Leu | |
| NM_177550.4:c.1500T>G , LRG_1020t1:c.1500T>G (SLC13A5) | NP_808218.1:p.Phe500Leu | |
| XM_006721504.2:c.1389T>G (SLC13A5) | XP_006721567.1:p.Phe463Leu | |
| XM_011523795.3:c.*173T>G (SLC13A5) | XP_011522097.1:n.*173T>G | |
| NM_001143838.3:c.1438-1266T>G (SLC13A5) | NP_001137310.1:n.1438-1266T>G | |
| NM_001284509.2:c.1449T>G (SLC13A5) | NP_001271438.1:p.Phe483Leu | |
| NM_001284510.2:c.1371T>G (SLC13A5) | NP_001271439.1:p.Phe457Leu | |
| NM_177550.5:c.1500T>G (SLC13A5) MANE Select | NP_808218.1:p.Phe500Leu |