Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792203G= , CM000677.2:g.34792203G= | GRCh38 |
| NC_000015.9:g.35084404G= , CM000677.1:g.35084404G= | GRCh37 |
| NC_000015.8:g.32871696G= | NCBI36 |
| NG_007553.1:g.8524C= , LRG_388:g.8524C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.695C= (ACTC1) MANE Select | NP_005150.1:p.Ala232= |
| ENST00000290378.6:c.695C= (ACTC1) MANE Select | ENSP00000290378.4:p.Ala232= |
| NM_005159.4:c.695C= , LRG_388t1:c.695C= (ACTC1) | NP_005150.1:p.Ala232= |
| NR_120329.1:n.299+14772G= (GJD2-DT) | |
| ENST00000290378.4:c.695C= (ACTC1) | ENSP00000290378.4:p.Ala232= |
| ENST00000557860.1:n.385C= (ACTC1) | |
| ENST00000560563.1:n.194C= (ACTC1) | |
| ENST00000560563.2:n.801C= (ACTC1) | |
| ENST00000647798.1:n.789C= (ACTC1) | |
| ENST00000650163.1:n.775C= (ACTC1) |