Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791444C= , CM000677.2:g.34791444C= | GRCh38 |
| NC_000015.9:g.35083645C= , CM000677.1:g.35083645C= | GRCh37 |
| NC_000015.8:g.32870937C= | NCBI36 |
| NG_007553.1:g.9283G= , LRG_388:g.9283G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1560G= (ACTC1) | ||
| ENST00000290378.6:c.809-149G= (ACTC1) MANE Select | ENSP00000290378.4:n.809-149G= | |
| ENST00000647798.1:n.903-149G= (ACTC1) | ||
| ENST00000650163.1:n.889-149G= (ACTC1) | ||
| ENST00000290378.4:c.809-149G= (ACTC1) | ENSP00000290378.4:n.809-149G= | |
| ENST00000557860.1:n.499-149G= (ACTC1) | ||
| NM_005159.4:c.809-149G= , LRG_388t1:c.809-149G= (ACTC1) | NP_005150.1:n.809-149G= | |
| NR_120329.1:n.299+14013C= (GJD2-DT) | ||
| NM_005159.5:c.809-149G= (ACTC1) MANE Select | NP_005150.1:n.809-149G= |