Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31354449G>A , CM000680.2:g.31354449G>A | GRCh38 |
| NC_000018.9:g.28934412G>A , CM000680.1:g.28934412G>A | GRCh37 |
| NC_000018.8:g.27188410G>A | NCBI36 |
| NG_011803.2:g.41361G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001942.4:c.2253G>A (DSG1) MANE Select | NP_001933.2:p.Leu751= |
| ENST00000257192.5:c.2253G>A (DSG1) MANE Select | ENSP00000257192.4:p.Leu751= |
| NM_001942.3:c.2253G>A (DSG1) | NP_001933.2:p.Leu751= |
| NR_110788.1:n.161C>T (DSG1-AS1) | |
| ENST00000257192.4:c.2253G>A (DSG1) | ENSP00000257192.4:p.Leu751= |
| ENST00000462981.2:c.330G>A (DSG1) | ENSP00000462666.1:p.Leu110= |