Revel Score:
ENST00000551171 (MANE Select)
0.844
ENST00000267502
0.844
ENST00000539142
0.844
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729209A>G , CM000676.2:g.67729209A>G | GRCh38 |
| NC_000014.8:g.68195926A>G , CM000676.1:g.68195926A>G | GRCh37 |
| NC_000014.7:g.67265679A>G | NCBI36 |
| NG_008321.1:g.32324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.677A>G (RDH12) MANE Select | ENSP00000449079.1:p.Tyr226Cys | |
| ENST00000267502.3:c.677A>G (RDH12) | ENSP00000267502.3:p.Tyr226Cys | |
| ENST00000394455.6:n.3288+2T>C (ZFYVE26) | ||
| ENST00000551171.5:c.677A>G (RDH12) | ENSP00000449079.1:p.Tyr226Cys | |
| ENST00000552873.1:n.46A>G (RDH12) | ||
| NM_152443.2:c.677A>G (RDH12) | NP_689656.2:p.Tyr226Cys | |
| XM_017020925.2:c.1313-5986A>G (GPHN) | XP_016876414.1:n.1313-5986A>G | |
| XM_017021125.1:c.*533T>C (ZFYVE26) | XP_016876614.1:n.*533T>C | |
| NM_152443.3:c.677A>G (RDH12) MANE Select | NP_689656.2:p.Tyr226Cys |