Revel Score:
ENST00000306324 (MANE Select)
0.311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176151875A>C , CM000664.2:g.176151875A>C | GRCh38 |
| NC_000002.11:g.177016603A>C , CM000664.1:g.177016603A>C | GRCh37 |
| NC_000002.10:g.176724849A>C | NCBI36 |
| NG_012080.1:g.5491A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306324.4:c.242A>C (HOXD4) MANE Select | ENSP00000302548.3:p.Glu81Ala | |
| ENST00000306324.3:c.242A>C (HOXD4) | ENSP00000302548.3:p.Glu81Ala | |
| ENST00000432796.2:c.-85+14876A>C (HOXD3) | ENSP00000392615.2:n.-85+14876A>C | |
| ENST00000468418.4:c.242A>C | ENSP00000424734.3:p.Glu81Ala | |
| NM_014621.2:c.242A>C (HOXD4) | NP_055436.2:p.Glu81Ala | |
| XM_005246510.3:c.-180-12198A>C (HOXD3) | XP_005246567.1:n.-180-12198A>C | |
| XM_005246514.3:c.242A>C (HOXD4) | XP_005246571.1:p.Glu81Ala | |
| XM_006712477.2:c.-85+14876A>C (HOXD3) | XP_006712540.1:n.-85+14876A>C | |
| XM_005246514.4:c.242A>C (HOXD4) | XP_005246571.1:p.Glu81Ala | |
| NM_014621.3:c.242A>C (HOXD4) MANE Select | NP_055436.2:p.Glu81Ala |