Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73295471C>T , CM000670.2:g.73295471C>T | GRCh38 |
| NC_000008.10:g.74207706C>T , CM000670.1:g.74207706C>T | GRCh37 |
| NC_000008.9:g.74370260C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240285.10:c.182C>T (RDH10) MANE Select | ENSP00000240285.5:p.Ala61Val | |
| ENST00000240285.9:c.182C>T (RDH10) | ENSP00000240285.5:p.Ala61Val | |
| ENST00000396466.5:c.-107+294G>A (RPL7) | ENSP00000379730.1:n.-107+294G>A | |
| NM_172037.4:c.182C>T (RDH10) | NP_742034.1:p.Ala61Val | |
| NM_172037.5:c.182C>T (RDH10) MANE Select | NP_742034.1:p.Ala61Val |