Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792544A= , CM000677.2:g.34792544A= | GRCh38 |
| NC_000015.9:g.35084745A= , CM000677.1:g.35084745A= | GRCh37 |
| NC_000015.8:g.32872037A= | NCBI36 |
| NG_007553.1:g.8183T= , LRG_388:g.8183T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.586T= (ACTC1) | ||
| ENST00000290378.6:c.480T= (ACTC1) MANE Select | ENSP00000290378.4:p.Gly160= | |
| ENST00000647798.1:n.574T= (ACTC1) | ||
| ENST00000648556.1:n.637T= (ACTC1) | ||
| ENST00000650163.1:n.560T= (ACTC1) | ||
| ENST00000290378.4:c.480T= (ACTC1) | ENSP00000290378.4:p.Gly160= | |
| ENST00000557860.1:n.170T= (ACTC1) | ||
| NM_005159.4:c.480T= , LRG_388t1:c.480T= (ACTC1) | NP_005150.1:p.Gly160= | |
| NR_120329.1:n.299+15113A= (GJD2-DT) | ||
| NM_005159.5:c.480T= (ACTC1) MANE Select | NP_005150.1:p.Gly160= |