Revel Score:
ENST00000369887 (MANE Select)
0.704
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001066 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000859 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832610C>T , CM000672.2:g.102832610C>T | GRCh38 |
| NC_000010.10:g.104592367C>T , CM000672.1:g.104592367C>T | GRCh37 |
| NC_000010.9:g.104582357C>T | NCBI36 |
| NG_007955.1:g.9924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1040G>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg347His | |
| ENST00000638190.1:c.737G>A (CYP17A1) | ENSP00000492539.1:p.Arg246His | |
| ENST00000638272.1:c.584G>A (CYP17A1) | ENSP00000491508.1:p.Arg195His | |
| ENST00000638971.1:c.953G>A (CYP17A1) | ENSP00000492313.1:p.Arg318His | |
| ENST00000639393.1:c.1040G>A (CYP17A1) | ENSP00000492651.1:p.Arg347His | |
| ENST00000640633.1:n.802G>A (CYP17A1) | ||
| ENST00000647664.1:c.*1641C>T (WBP1L) | ENSP00000498131.1:n.*1641C>T | |
| ENST00000369887.3:c.1040G>A (CYP17A1) | ENSP00000358903.3:p.Arg347His | |
| NM_000102.3:c.1040G>A (CYP17A1) | NP_000093.1:p.Arg347His | |
| NM_000102.4:c.1040G>A (CYP17A1) MANE Select | NP_000093.1:p.Arg347His |