Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36549240A>C , CM000682.2:g.36549240A>C | GRCh38 |
| NC_000020.10:g.35177643A>C , CM000682.1:g.35177643A>C | GRCh37 |
| NC_000020.9:g.34611057A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279022.7:c.510A>C (MYL9) MANE Select | ENSP00000279022.2:p.Lys170Asn | |
| ENST00000279022.6:c.510A>C (MYL9) | ENSP00000279022.2:p.Lys170Asn | |
| ENST00000346786.2:c.348A>C (MYL9) | ENSP00000217313.2:p.Lys116Asn | |
| NM_006097.4:c.510A>C (MYL9) | NP_006088.2:p.Lys170Asn | |
| NM_181526.2:c.348A>C (MYL9) | NP_852667.1:p.Lys116Asn | |
| NR_109939.1:n.467+22201T>G (DLGAP4-AS1) | ||
| NM_006097.5:c.510A>C (MYL9) MANE Select | NP_006088.2:p.Lys170Asn | |
| NM_181526.3:c.348A>C (MYL9) | NP_852667.1:p.Lys116Asn |