Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.102937444G>A , CM000685.2:g.102937444G>A | GRCh38 |
| NC_000023.10:g.102192372G>A , CM000685.1:g.102192372G>A | GRCh37 |
| NC_000023.9:g.102079028G>A | NCBI36 |
| NG_017150.1:g.5173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218249.7:c.126G>A (RAB40AL) MANE Select | ENSP00000218249.5:p.Pro42= | |
| ENST00000218249.6:c.126G>A (RAB40AL) | ENSP00000218249.5:p.Pro42= | |
| NM_001031834.1:c.126G>A (RAB40AL) MANE Select | NP_001027004.1:p.Pro42= | |
| XR_938474.1:n.1606-21204G>A | ||
| NR_146589.1:n.1910-21204G>A (LINC00630) |