Revel Score:
ENST00000409271
0.113
ENST00000376651
0.113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108910915G>T , CM000664.2:g.108910915G>T | GRCh38 |
| NC_000002.11:g.109527371G>T , CM000664.1:g.109527371G>T | GRCh37 |
| NC_000002.10:g.108893803G>T | NCBI36 |
| NG_008257.1:g.83458C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.655+32C>A (EDAR) MANE Select | ENSP00000258443.2:n.655+32C>A | |
| ENST00000258443.6:c.655+32C>A (EDAR) | ENSP00000258443.2:n.655+32C>A | |
| ENST00000376651.1:c.687C>A (EDAR) | ENSP00000365839.1:p.Phe229Leu | |
| ENST00000409271.5:c.687C>A (EDAR) | ENSP00000386371.1:p.Phe229Leu | |
| NM_022336.3:c.655+32C>A (EDAR) | NP_071731.1:n.655+32C>A | |
| XM_006712204.1:c.687C>A (EDAR) | XP_006712267.1:p.Phe229Leu | |
| XM_011510502.1:c.738C>A (EDAR) | XP_011508804.1:p.Phe246Leu | |
| XM_011510503.1:c.706+32C>A (EDAR) | XP_011508805.1:n.706+32C>A | |
| XM_011510504.1:c.82+32C>A (EDAR) | XP_011508806.1:n.82+32C>A | |
| XM_011510502.2:c.831C>A (EDAR) | XP_011508804.2:p.Phe277Leu | |
| XM_011510503.2:c.799+32C>A (EDAR) | XP_011508805.2:n.799+32C>A | |
| XM_017004623.2:c.8370+137869G>T (RANBP2) | XP_016860112.1:n.8370+137869G>T | |
| NM_022336.4:c.655+32C>A (EDAR) MANE Select | NP_071731.1:n.655+32C>A |