Revel Score:
ENST00000308128 (MANE Select)
0.093
ENST00000359747
0.093
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31406370A>T , CM000680.2:g.31406370A>T | GRCh38 |
| NC_000018.9:g.28986333A>T , CM000680.1:g.28986333A>T | GRCh37 |
| NC_000018.8:g.27240331A>T | NCBI36 |
| NG_013040.1:g.34594A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.1930A>T (DSG4) MANE Select | ENSP00000311859.4:p.Ile644Phe | |
| ENST00000308128.8:c.1930A>T (DSG4) | ENSP00000311859.4:p.Ile644Phe | |
| ENST00000359747.4:c.1930A>T (DSG4) | ENSP00000352785.4:p.Ile644Phe | |
| NM_001134453.1:c.1930A>T (DSG4) | NP_001127925.1:p.Ile644Phe | |
| NM_177986.3:c.1930A>T (DSG4) | NP_817123.1:p.Ile644Phe | |
| NR_110788.1:n.156+20463T>A (DSG1-AS1) | ||
| XM_011525827.1:c.532A>T (DSG4) | XP_011524129.1:p.Ile178Phe | |
| NM_001134453.2:c.1930A>T (DSG4) | NP_001127925.1:p.Ile644Phe | |
| NM_177986.4:c.1930A>T (DSG4) | NP_817123.1:p.Ile644Phe | |
| NM_177986.5:c.1930A>T (DSG4) MANE Select | NP_817123.1:p.Ile644Phe | |
| NM_001134453.3:c.1930A>T (DSG4) | NP_001127925.1:p.Ile644Phe |