Revel Score:
ENST00000265081 (MANE Select)
0.218
ENST00000535995
0.218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80654962A>C , CM000667.2:g.80654962A>C | GRCh38 |
| NC_000005.9:g.79950781A>C , CM000667.1:g.79950781A>C | GRCh37 |
| NC_000005.8:g.79986537A>C | NCBI36 |
| NG_016607.1:g.5488A>C | |
| NG_023304.1:g.5020T>G | |
| NG_016607.2:g.5488A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.235A>C (MSH3) MANE Select | ENSP00000265081.6:p.Ile79Leu | |
| ENST00000439211.7:c.-473T>G (DHFR) MANE Select | ENSP00000396308.2:n.-473T>G | |
| ENST00000667069.1:c.235A>C (MSH3) | ENSP00000499502.1:p.Ile79Leu | |
| ENST00000670357.1:c.235A>C (MSH3) | ENSP00000499791.1:p.Ile79Leu | |
| ENST00000265081.6:c.235A>C (MSH3) | ENSP00000265081.6:p.Ile79Leu | |
| ENST00000439211.6:c.-473T>G (DHFR) | ENSP00000396308.2:n.-473T>G | |
| NM_000791.3:c.-473T>G (DHFR) | NP_000782.1:n.-473T>G | |
| NM_001290354.1:c.-579T>G (DHFR) | NP_001277283.1:n.-579T>G | |
| NM_001290357.1:c.-473T>G (DHFR) | NP_001277286.1:n.-473T>G | |
| NM_002439.4:c.235A>C (MSH3) | NP_002430.3:p.Ile79Leu | |
| NR_110936.1:n.20T>G (DHFR) | ||
| NM_000791.4:c.-473T>G (DHFR) MANE Select | NP_000782.1:n.-473T>G | |
| NM_002439.5:c.235A>C (MSH3) MANE Select | NP_002430.3:p.Ile79Leu | |
| NM_001290354.2:c.-579T>G (DHFR) | NP_001277283.1:n.-579T>G | |
| NM_001290357.2:c.-473T>G (DHFR) | NP_001277286.1:n.-473T>G | |
| NR_110936.2:n.22T>G (DHFR) |