Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.102937597C>T , CM000685.2:g.102937597C>T | GRCh38 |
| NC_000023.10:g.102192525C>T , CM000685.1:g.102192525C>T | GRCh37 |
| NC_000023.9:g.102079181C>T | NCBI36 |
| NG_017150.1:g.5326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218249.7:c.279C>T (RAB40AL) MANE Select | ENSP00000218249.5:p.Val93= | |
| ENST00000218249.6:c.279C>T (RAB40AL) | ENSP00000218249.5:p.Val93= | |
| NM_001031834.1:c.279C>T (RAB40AL) MANE Select | NP_001027004.1:p.Val93= | |
| XR_938474.1:n.1606-21051C>T | ||
| NR_146589.1:n.1910-21051C>T (LINC00630) |