Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683193G>A , CM000669.2:g.73683193G>A | GRCh38 |
| NC_000007.13:g.73097523G>A , CM000669.1:g.73097523G>A | GRCh37 |
| NC_000007.12:g.72735459G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.231C>T (DNAJC30) MANE Select | ENSP00000378605.1:p.His77= | |
| ENST00000395176.2:c.231C>T (DNAJC30) | ENSP00000378605.1:p.His77= | |
| ENST00000464615.1:n.169G>A (BUD23) | ||
| NM_032317.2:c.231C>T (DNAJC30) | NP_115693.2:p.His77= | |
| NM_032317.3:c.231C>T (DNAJC30) MANE Select | NP_115693.2:p.His77= |