Revel Score:
ENST00000409271
0.108
ENST00000376651
0.108
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108910917A>T , CM000664.2:g.108910917A>T | GRCh38 |
| NC_000002.11:g.109527373A>T , CM000664.1:g.109527373A>T | GRCh37 |
| NC_000002.10:g.108893805A>T | NCBI36 |
| NG_008257.1:g.83456T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.655+30T>A (EDAR) MANE Select | ENSP00000258443.2:n.655+30T>A | |
| ENST00000258443.6:c.655+30T>A (EDAR) | ENSP00000258443.2:n.655+30T>A | |
| ENST00000376651.1:c.685T>A (EDAR) | ENSP00000365839.1:p.Phe229Ile | |
| ENST00000409271.5:c.685T>A (EDAR) | ENSP00000386371.1:p.Phe229Ile | |
| NM_022336.3:c.655+30T>A (EDAR) | NP_071731.1:n.655+30T>A | |
| XM_006712204.1:c.685T>A (EDAR) | XP_006712267.1:p.Phe229Ile | |
| XM_011510502.1:c.736T>A (EDAR) | XP_011508804.1:p.Phe246Ile | |
| XM_011510503.1:c.706+30T>A (EDAR) | XP_011508805.1:n.706+30T>A | |
| XM_011510504.1:c.82+30T>A (EDAR) | XP_011508806.1:n.82+30T>A | |
| XM_011510502.2:c.829T>A (EDAR) | XP_011508804.2:p.Phe277Ile | |
| XM_011510503.2:c.799+30T>A (EDAR) | XP_011508805.2:n.799+30T>A | |
| XM_017004623.2:c.8370+137871A>T (RANBP2) | XP_016860112.1:n.8370+137871A>T | |
| NM_022336.4:c.655+30T>A (EDAR) MANE Select | NP_071731.1:n.655+30T>A |