Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793272A>C , CM000677.2:g.34793272A>C | GRCh38 |
| NC_000015.9:g.35085473A>C , CM000677.1:g.35085473A>C | GRCh37 |
| NC_000015.8:g.32872765A>C | NCBI36 |
| NG_007553.1:g.7455T>G , LRG_388:g.7455T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.533T>G (ACTC1) | ||
| ENST00000290378.6:c.427T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Ser143Ala | |
| ENST00000647798.1:n.548+26T>G (ACTC1) | ||
| ENST00000648556.1:n.584T>G (ACTC1) | ||
| ENST00000650163.1:n.507T>G (ACTC1) | ||
| ENST00000290378.4:c.427T>G (ACTC1) | ENSP00000290378.4:p.Ser143Ala | |
| NM_005159.4:c.427T>G , LRG_388t1:c.427T>G (ACTC1) | NP_005150.1:p.Ser143Ala | |
| NR_120329.1:n.299+15841A>C (GJD2-DT) | ||
| NM_005159.5:c.427T>G (ACTC1) MANE Select | NP_005150.1:p.Ser143Ala |