Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793483G= , CM000677.2:g.34793483G= | GRCh38 |
| NC_000015.9:g.35085684G= , CM000677.1:g.35085684G= | GRCh37 |
| NC_000015.8:g.32872976G= | NCBI36 |
| NG_007553.1:g.7244C= , LRG_388:g.7244C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.322C= (ACTC1) | ||
| ENST00000290378.6:c.216C= (ACTC1) MANE Select | ENSP00000290378.4:p.Pro72= | |
| ENST00000647798.1:n.363C= (ACTC1) | ||
| ENST00000648556.1:n.373C= (ACTC1) | ||
| ENST00000650163.1:n.296C= (ACTC1) | ||
| ENST00000290378.4:c.216C= (ACTC1) | ENSP00000290378.4:p.Pro72= | |
| NM_005159.4:c.216C= , LRG_388t1:c.216C= (ACTC1) | NP_005150.1:p.Pro72= | |
| NR_120329.1:n.299+16052G= (GJD2-DT) | ||
| NM_005159.5:c.216C= (ACTC1) MANE Select | NP_005150.1:p.Pro72= |