Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67727014G>A , CM000676.2:g.67727014G>A | GRCh38 |
| NC_000014.8:g.68193731G>A , CM000676.1:g.68193731G>A | GRCh37 |
| NC_000014.7:g.67263484G>A | NCBI36 |
| NG_008321.1:g.30129G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152443.3:c.482G>A (RDH12) MANE Select | NP_689656.2:p.Arg161Gln |
| ENST00000551171.6:c.482G>A (RDH12) MANE Select | ENSP00000449079.1:p.Arg161Gln |
| NM_152443.2:c.482G>A (RDH12) | NP_689656.2:p.Arg161Gln |
| ENST00000267502.3:c.482G>A (RDH12) | ENSP00000267502.3:p.Arg161Gln |
| ENST00000551171.5:c.482G>A (RDH12) | ENSP00000449079.1:p.Arg161Gln |
| XM_017020925.2:c.1313-8181G>A (GPHN) | XP_016876414.1:n.1313-8181G>A |