Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.109624334G>A , CM000685.2:g.109624334G>A | GRCh38 |
| NC_000023.10:g.108867563G>A , CM000685.1:g.108867563G>A | GRCh37 |
| NC_000023.9:g.108754219G>A | NCBI36 |
| NG_013241.1:g.5831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372101.3:c.*258C>T (KCNE5) MANE Select | ENSP00000361173.2:n.*258C>T | |
| ENST00000439581.1:n.387-13C>T (ACSL4) | ||
| NM_012282.2:c.*258C>T (KCNE5) | NP_036414.1:n.*258C>T | |
| NM_012282.3:c.*258C>T (KCNE5) | NP_036414.1:n.*258C>T | |
| NM_012282.4:c.*258C>T (KCNE5) MANE Select | NP_036414.1:n.*258C>T |