Revel Score:
ENST00000409271
0.663
ENST00000258443 (MANE Select)
0.663
ENST00000376651
0.663
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897194C>T , CM000664.2:g.108897194C>T | GRCh38 |
| NC_000002.11:g.109513650C>T , CM000664.1:g.109513650C>T | GRCh37 |
| NC_000002.10:g.108880082C>T | NCBI36 |
| NG_008257.1:g.97179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1060G>A (EDAR) MANE Select | ENSP00000258443.2:p.Glu354Lys | |
| ENST00000258443.6:c.1060G>A (EDAR) | ENSP00000258443.2:p.Glu354Lys | |
| ENST00000376651.1:c.1156G>A (EDAR) | ENSP00000365839.1:p.Glu386Lys | |
| ENST00000409271.5:c.1156G>A (EDAR) | ENSP00000386371.1:p.Glu386Lys | |
| NM_022336.3:c.1060G>A (EDAR) | NP_071731.1:p.Glu354Lys | |
| XM_006712204.1:c.1156G>A (EDAR) | XP_006712267.1:p.Glu386Lys | |
| XM_011510502.1:c.1207G>A (EDAR) | XP_011508804.1:p.Glu403Lys | |
| XM_011510503.1:c.1111G>A (EDAR) | XP_011508805.1:p.Glu371Lys | |
| XM_011510504.1:c.487G>A (EDAR) | XP_011508806.1:p.Glu163Lys | |
| XM_011510502.2:c.1300G>A (EDAR) | XP_011508804.2:p.Glu434Lys | |
| XM_011510503.2:c.1204G>A (EDAR) | XP_011508805.2:p.Glu402Lys | |
| XM_017004623.2:c.8370+124148C>T (RANBP2) | XP_016860112.1:n.8370+124148C>T | |
| NM_022336.4:c.1060G>A (EDAR) MANE Select | NP_071731.1:p.Glu354Lys |