Revel Score:
ENST00000324344 (MANE Select)
0.118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20859939T>C , CM000678.2:g.20859939T>C | GRCh38 |
| NC_000016.9:g.20871261T>C , CM000678.1:g.20871261T>C | GRCh37 |
| NC_000016.8:g.20778762T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324344.9:c.862A>G (DCUN1D3) MANE Select | ENSP00000319482.3:p.Arg288Gly | |
| ENST00000324344.8:c.862A>G (DCUN1D3) | ENSP00000319482.3:p.Arg288Gly | |
| ENST00000563934.1:c.862A>G (DCUN1D3) | ENSP00000454762.1:p.Arg288Gly | |
| ENST00000564349.5:c.-257+36369A>G (ERI2) | ENSP00000455982.1:n.-257+36369A>G | |
| NM_173475.2:c.862A>G (DCUN1D3) | NP_775746.1:p.Arg288Gly | |
| NM_173475.3:c.862A>G (DCUN1D3) | NP_775746.1:p.Arg288Gly | |
| NM_173475.4:c.862A>G (DCUN1D3) MANE Select | NP_775746.1:p.Arg288Gly |