Linked Data
ClinVar Variation Id:
3163613
ClinVar RCV Id:
RCV004456430
dbSNP Id:
rs201070991
ExAC:
17:73269605 C / A
gnomAD v2:
17-73269605-C-A
gnomAD v3:
17-75273524-C-A
gnomAD v4:
17-75273524-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75273524C>A , CM000679.2:g.75273524C>A | GRCh38 |
| NC_000017.10:g.73269605C>A , CM000679.1:g.73269605C>A | GRCh37 |
| NC_000017.9:g.70781200C>A | NCBI36 |
| NG_008274.1:g.20926G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416858.7:c.890G>T (SLC25A19) MANE Select | ENSP00000397818.2:p.Gly297Val | |
| ENST00000320362.7:c.890G>T (SLC25A19) | ENSP00000319574.3:p.Gly297Val | |
| ENST00000375261.8:c.719G>T (SLC25A19) | ENSP00000364410.4:p.Gly240Val | |
| ENST00000402418.7:c.890G>T (SLC25A19) | ENSP00000385312.3:p.Gly297Val | |
| ENST00000416858.6:c.890G>T (SLC25A19) | ENSP00000397818.2:p.Gly297Val | |
| ENST00000442286.6:c.890G>T (SLC25A19) | ENSP00000402202.2:p.Gly297Val | |
| ENST00000580994.5:c.890G>T (SLC25A19) | ENSP00000463795.1:p.Gly297Val | |
| ENST00000582822.1:c.152-236G>T (SLC25A19) | ||
| NM_001126121.1:c.890G>T (SLC25A19) | NP_001119593.1:p.Gly297Val | |
| NM_001126122.1:c.890G>T (SLC25A19) | NP_001119594.1:p.Gly297Val | |
| NM_021734.4:c.890G>T (SLC25A19) | NP_068380.3:p.Gly297Val | |
| NR_036520.1:n.2226C>A (MIF4GD-DT) | ||
| XM_005257559.2:c.890G>T (SLC25A19) | XP_005257616.1:p.Gly297Val | |
| XM_005257560.1:c.890G>T (SLC25A19) | XP_005257617.1:p.Gly297Val | |
| XM_005257561.2:c.890G>T (SLC25A19) | XP_005257618.1:p.Gly297Val | |
| XM_005257562.1:c.890G>T (SLC25A19) | XP_005257619.1:p.Gly297Val | |
| XM_006722007.1:c.890G>T (SLC25A19) | XP_006722070.1:p.Gly297Val | |
| XM_011525098.1:c.575G>T (SLC25A19) | XP_011523400.1:p.Gly192Val | |
| XM_005257559.4:c.890G>T (SLC25A19) | XP_005257616.1:p.Gly297Val | |
| XM_005257560.2:c.890G>T (SLC25A19) | XP_005257617.1:p.Gly297Val | |
| XM_005257561.4:c.890G>T (SLC25A19) | XP_005257618.1:p.Gly297Val | |
| XM_005257562.2:c.890G>T (SLC25A19) | XP_005257619.1:p.Gly297Val | |
| XM_006722007.2:c.890G>T (SLC25A19) | XP_006722070.1:p.Gly297Val | |
| XM_017024926.2:c.890G>T (SLC25A19) | XP_016880415.1:p.Gly297Val | |
| XM_017024927.2:c.587G>T (SLC25A19) | XP_016880416.1:p.Gly196Val | |
| XM_017024928.2:c.575G>T (SLC25A19) | XP_016880417.1:p.Gly192Val | |
| NM_001126121.2:c.890G>T (SLC25A19) MANE Select | NP_001119593.1:p.Gly297Val | |
| NM_001126122.2:c.890G>T (SLC25A19) | NP_001119594.1:p.Gly297Val | |
| NM_021734.5:c.890G>T (SLC25A19) | NP_068380.3:p.Gly297Val |