Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.109624811G>A , CM000685.2:g.109624811G>A | GRCh38 |
| NC_000023.10:g.108868040G>A , CM000685.1:g.108868040G>A | GRCh37 |
| NC_000023.9:g.108754696G>A | NCBI36 |
| NG_013241.1:g.5354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372101.3:c.210C>T (KCNE5) MANE Select | ENSP00000361173.2:p.Tyr70= | |
| ENST00000439581.1:n.387-490C>T (ACSL4) | ||
| NM_012282.2:c.210C>T (KCNE5) | NP_036414.1:p.Tyr70= | |
| NM_012282.3:c.210C>T (KCNE5) | NP_036414.1:p.Tyr70= | |
| NM_012282.4:c.210C>T (KCNE5) MANE Select | NP_036414.1:p.Tyr70= |