Linked Data
MyVariant Identifiers:
chr15:g.35083423G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791222G>A , CM000677.2:g.34791222G>A | GRCh38 |
| NC_000015.9:g.35083423G>A , CM000677.1:g.35083423G>A | GRCh37 |
| NC_000015.8:g.32870715G>A | NCBI36 |
| NG_007553.1:g.9505C>T , LRG_388:g.9505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1782C>T (ACTC1) | ||
| ENST00000290378.6:c.882C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Asp294= | |
| ENST00000647798.1:n.976C>T (ACTC1) | ||
| ENST00000650163.1:n.962C>T (ACTC1) | ||
| ENST00000290378.4:c.882C>T (ACTC1) | ENSP00000290378.4:p.Asp294= | |
| ENST00000557860.1:n.572C>T (ACTC1) | ||
| NM_005159.4:c.882C>T , LRG_388t1:c.882C>T (ACTC1) | NP_005150.1:p.Asp294= | |
| NR_120329.1:n.299+13791G>A (GJD2-DT) | ||
| NM_005159.5:c.882C>T (ACTC1) MANE Select | NP_005150.1:p.Asp294= |