Revel Score:
ENST00000296674 (MANE Select)
0.531
ENST00000510210
0.531
ENST00000512493
0.531
ENST00000510019
0.531
ENST00000507980
0.531
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.82276483C>T , CM000667.2:g.82276483C>T | GRCh38 |
| NC_000005.9:g.81572302C>T , CM000667.1:g.81572302C>T | GRCh37 |
| NC_000005.8:g.81608058C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296674.13:c.200G>A (RPS23) MANE Select | ENSP00000296674.8:p.Arg67Lys | |
| ENST00000651545.1:c.200G>A (RPS23) | ENSP00000498621.1:p.Arg67Lys | |
| ENST00000296674.12:c.200G>A (RPS23) | ENSP00000296674.8:p.Arg67Lys | |
| ENST00000503605.1:n.409G>A (RPS23) | ||
| ENST00000504293.5:n.295G>A (RPS23) | ||
| ENST00000507980.1:c.200G>A (RPS23) | ENSP00000422071.1:p.Arg67Lys | |
| ENST00000510019.5:c.200G>A (RPS23) | ENSP00000425833.1:p.Arg67Lys | |
| ENST00000510210.5:c.200G>A (RPS23) | ENSP00000427043.1:p.Arg67Lys | |
| ENST00000512493.5:c.200G>A (RPS23) | ENSP00000425865.1:p.Arg67Lys | |
| ENST00000514253.2:n.530C>T (ATG10) | ||
| NM_001025.4:c.200G>A (RPS23) | NP_001016.1:p.Arg67Lys | |
| NM_001025.5:c.200G>A (RPS23) MANE Select | NP_001016.1:p.Arg67Lys |