Revel Score:
ENST00000272425 (MANE Select)
0.041
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641201A>C , CM000664.2:g.73641201A>C | GRCh38 |
| NC_000002.11:g.73868328A>C , CM000664.1:g.73868328A>C | GRCh37 |
| NC_000002.10:g.73721836A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.428T>G (NAT8) MANE Select | ENSP00000272425.3:p.Phe143Cys | |
| ENST00000652439.1:n.119A>C (ALMS1P1) | ||
| ENST00000272425.3:c.428T>G (NAT8) | ENSP00000272425.3:p.Phe143Cys | |
| NM_003960.3:c.428T>G (NAT8) | NP_003951.3:p.Phe143Cys | |
| NM_003960.4:c.428T>G (NAT8) MANE Select | NP_003951.3:p.Phe143Cys |