Linked Data
ClinVar Variation Id:
475195
ClinVar RCV Id:
RCV000555123
dbSNP Id:
rs779942374
ExAC:
17:6590973 C / T
gnomAD v2:
17-6590973-C-T
gnomAD v3:
17-6687654-C-T
gnomAD v4:
17-6687654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6687654C>T , CM000679.2:g.6687654C>T | GRCh38 |
| NC_000017.10:g.6590973C>T , CM000679.1:g.6590973C>T | GRCh37 |
| NC_000017.9:g.6531697C>T | NCBI36 |
| NG_034220.1:g.30768G>A , LRG_1020:g.30768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1450G>A (SLC13A5) MANE Select | ENSP00000406220.2:p.Gly484Ser | |
| ENST00000635042.1:n.725-5211C>T (C17orf100) | ||
| ENST00000293800.10:c.1399G>A (SLC13A5) | ENSP00000293800.6:p.Gly467Ser | |
| ENST00000381074.8:c.1321G>A (SLC13A5) | ENSP00000370464.4:p.Gly441Ser | |
| ENST00000433363.6:c.1450G>A (SLC13A5) | ENSP00000406220.2:p.Gly484Ser | |
| ENST00000570687.1:c.119G>A (SLC13A5) | ||
| ENST00000573648.5:c.1438-1316G>A (SLC13A5) | ENSP00000459372.1:n.1438-1316G>A | |
| ENST00000574580.2:n.2467G>A (SLC13A5) | ||
| ENST00000634558.1:n.511-2222C>T (ALOX15P1) | ||
| ENST00000634823.1:n.265-5211C>T (ALOX15P1) | ||
| NM_001143838.2:c.1438-1316G>A (SLC13A5) | NP_001137310.1:n.1438-1316G>A | |
| NM_001284509.1:c.1399G>A (SLC13A5) | NP_001271438.1:p.Gly467Ser | |
| NM_001284510.1:c.1321G>A (SLC13A5) | NP_001271439.1:p.Gly441Ser | |
| NM_177550.4:c.1450G>A , LRG_1020t1:c.1450G>A (SLC13A5) | NP_808218.1:p.Gly484Ser | |
| XM_006721504.2:c.1339G>A (SLC13A5) | XP_006721567.1:p.Gly447Ser | |
| XM_011523795.3:c.*123G>A (SLC13A5) | XP_011522097.1:n.*123G>A | |
| NM_001143838.3:c.1438-1316G>A (SLC13A5) | NP_001137310.1:n.1438-1316G>A | |
| NM_001284509.2:c.1399G>A (SLC13A5) | NP_001271438.1:p.Gly467Ser | |
| NM_001284510.2:c.1321G>A (SLC13A5) | NP_001271439.1:p.Gly441Ser | |
| NM_177550.5:c.1450G>A (SLC13A5) MANE Select | NP_808218.1:p.Gly484Ser |