Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6539912G>T , CM000673.2:g.6539912G>T | GRCh38 |
| NC_000011.9:g.6561142G>T , CM000673.1:g.6561142G>T | GRCh37 |
| NC_000011.8:g.6517718G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144666.3:c.3457G>T (DNHD1) MANE Select | NP_653267.2:p.Glu1153Ter |
| ENST00000254579.11:c.3457G>T (DNHD1) MANE Select | ENSP00000254579.6:p.Glu1153Ter |
| NM_144666.2:c.3457G>T (DNHD1) | NP_653267.2:p.Glu1153Ter |
| ENST00000254579.10:c.3457G>T (DNHD1) | ENSP00000254579.6:p.Glu1153Ter |
| ENST00000527990.6:c.3457G>T (DNHD1) | ENSP00000436180.2:p.Glu1153Ter |
| ENST00000532027.5:c.765G>T (DNHD1) | ENSP00000435493.1:n.765G>T |
| ENST00000534210.6:n.628+1102G>T (DNHD1) | |
| XR_930859.1:n.1532-24980C>A (RRP8) |