Linked Data
ClinVar Variation Id:
325063
dbSNP Id:
rs62622012
ExAC:
17:73269332 C / T
gnomAD v2:
17-73269332-C-T
gnomAD v3:
17-75273251-C-T
gnomAD v4:
17-75273251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75273251C>T , CM000679.2:g.75273251C>T | GRCh38 |
| NC_000017.10:g.73269332C>T , CM000679.1:g.73269332C>T | GRCh37 |
| NC_000017.9:g.70780927C>T | NCBI36 |
| NG_008274.1:g.21199G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416858.7:c.*200G>A (SLC25A19) MANE Select | ENSP00000397818.2:n.*200G>A | |
| ENST00000320362.7:c.*200G>A (SLC25A19) | ENSP00000319574.3:n.*200G>A | |
| ENST00000375261.8:c.*200G>A (SLC25A19) | ENSP00000364410.4:n.*200G>A | |
| ENST00000402418.7:c.*200G>A (SLC25A19) | ENSP00000385312.3:n.*200G>A | |
| ENST00000416858.6:c.*200G>A (SLC25A19) | ENSP00000397818.2:n.*200G>A | |
| ENST00000442286.6:c.*200G>A (SLC25A19) | ENSP00000402202.2:n.*200G>A | |
| ENST00000580994.5:c.*200G>A (SLC25A19) | ENSP00000463795.1:n.*200G>A | |
| ENST00000582822.1:c.189G>A (SLC25A19) | ||
| NM_001126121.1:c.*200G>A (SLC25A19) | NP_001119593.1:n.*200G>A | |
| NM_001126122.1:c.*200G>A (SLC25A19) | NP_001119594.1:n.*200G>A | |
| NM_021734.4:c.*200G>A (SLC25A19) | NP_068380.3:n.*200G>A | |
| NR_036520.1:n.1953C>T (MIF4GD-DT) | ||
| XM_005257559.2:c.*200G>A (SLC25A19) | XP_005257616.1:n.*200G>A | |
| XM_005257560.1:c.*200G>A (SLC25A19) | XP_005257617.1:n.*200G>A | |
| XM_005257561.2:c.*200G>A (SLC25A19) | XP_005257618.1:n.*200G>A | |
| XM_005257562.1:c.*200G>A (SLC25A19) | XP_005257619.1:n.*200G>A | |
| XM_006722007.1:c.*200G>A (SLC25A19) | XP_006722070.1:n.*200G>A | |
| XM_011525098.1:c.*200G>A (SLC25A19) | XP_011523400.1:n.*200G>A | |
| XM_005257559.4:c.*200G>A (SLC25A19) | XP_005257616.1:n.*200G>A | |
| XM_005257560.2:c.*200G>A (SLC25A19) | XP_005257617.1:n.*200G>A | |
| XM_005257561.4:c.*200G>A (SLC25A19) | XP_005257618.1:n.*200G>A | |
| XM_005257562.2:c.*200G>A (SLC25A19) | XP_005257619.1:n.*200G>A | |
| XM_006722007.2:c.*200G>A (SLC25A19) | XP_006722070.1:n.*200G>A | |
| XM_017024926.2:c.*200G>A (SLC25A19) | XP_016880415.1:n.*200G>A | |
| XM_017024927.2:c.*200G>A (SLC25A19) | XP_016880416.1:n.*200G>A | |
| XM_017024928.2:c.*200G>A (SLC25A19) | XP_016880417.1:n.*200G>A | |
| NM_001126121.2:c.*200G>A (SLC25A19) MANE Select | NP_001119593.1:n.*200G>A | |
| NM_001126122.2:c.*200G>A (SLC25A19) | NP_001119594.1:n.*200G>A | |
| NM_021734.5:c.*200G>A (SLC25A19) | NP_068380.3:n.*200G>A |