Linked Data
ClinVar Variation Id:
212303
dbSNP Id:
rs35496669
ExAC:
4:56233758 A / C
gnomAD v2:
4-56233758-A-C
gnomAD v3:
4-55367591-A-C
gnomAD v4:
4-55367591-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55367591A>C , CM000666.2:g.55367591A>C | GRCh38 |
| NC_000004.11:g.56233758A>C , CM000666.1:g.56233758A>C | GRCh37 |
| NC_000004.10:g.55928515A>C | NCBI36 |
| NG_028230.1:g.26371A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.566A>C (SRD5A3) MANE Select | ENSP00000264228.4:p.Tyr189Ser | |
| ENST00000677177.2:c.413A>C (SRD5A3) | ||
| ENST00000677217.1:n.435-2241A>C (SRD5A3) | ||
| ENST00000677930.1:n.2898A>C (SRD5A3) | ||
| ENST00000678717.1:n.463A>C (SRD5A3) | ||
| ENST00000679351.1:c.*172A>C | ENSP00000505676.1:n.*172A>C | |
| ENST00000679707.1:c.562+3320A>C | ENSP00000505713.1:n.562+3320A>C | |
| ENST00000679836.1:c.563-2241A>C (SRD5A3) | ENSP00000506601.1:n.563-2241A>C | |
| ENST00000680700.1:c.562+3320A>C | ENSP00000504926.1:n.562+3320A>C | |
| ENST00000264228.8:c.566A>C (SRD5A3) | ENSP00000264228.4:p.Tyr189Ser | |
| ENST00000505210.1:c.290-2241A>C (SRD5A3) | ENSP00000424714.1:n.290-2241A>C | |
| ENST00000514398.1:n.572-2241A>C (SRD5A3) | ||
| NM_024592.4:c.566A>C (SRD5A3) | NP_078868.1:p.Tyr189Ser | |
| NR_037969.1:n.364-428T>G (SRD5A3-AS1) | ||
| XM_005265766.2:c.563-2241A>C (SRD5A3) | XP_005265823.1:n.563-2241A>C | |
| XM_005265767.2:c.365-2241A>C (SRD5A3) | XP_005265824.1:n.365-2241A>C | |
| XM_005265766.4:c.563-2241A>C (SRD5A3) | XP_005265823.1:n.563-2241A>C | |
| XM_005265767.3:c.365-2241A>C (SRD5A3) | XP_005265824.1:n.365-2241A>C | |
| XM_017008601.1:c.431A>C (SRD5A3) | XP_016864090.1:p.Tyr144Ser | |
| NM_024592.5:c.566A>C (SRD5A3) MANE Select | NP_078868.1:p.Tyr189Ser |