Linked Data
ClinVar Variation Id:
349035
ClinVar RCV Id:
RCV000321231
dbSNP Id:
rs547199503
gnomAD v3:
4-55372181-G-A
gnomAD v4:
4-55372181-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55372181G>A , CM000666.2:g.55372181G>A | GRCh38 |
| NC_000004.11:g.56238348G>A , CM000666.1:g.56238348G>A | GRCh37 |
| NC_000004.10:g.55933105G>A | NCBI36 |
| NG_028230.1:g.30961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.*2090G>A (SRD5A3) MANE Select | ENSP00000264228.4:n.*2090G>A | |
| ENST00000679351.1:c.*1150+364G>A | ENSP00000505676.1:n.*1150+364G>A | |
| ENST00000679707.1:c.706+364G>A | ENSP00000505713.1:n.706+364G>A | |
| ENST00000680700.1:c.562+7910G>A | ENSP00000504926.1:n.562+7910G>A | |
| ENST00000264228.8:c.*2090G>A (SRD5A3) | ENSP00000264228.4:n.*2090G>A | |
| NM_024592.4:c.*2090G>A (SRD5A3) | NP_078868.1:n.*2090G>A | |
| NR_037969.1:n.363+2690C>T (SRD5A3-AS1) | ||
| XM_005265766.2:c.*2090G>A (SRD5A3) | XP_005265823.1:n.*2090G>A | |
| XM_005265767.2:c.*2090G>A (SRD5A3) | XP_005265824.1:n.*2090G>A | |
| XM_005265766.4:c.*2090G>A (SRD5A3) | XP_005265823.1:n.*2090G>A | |
| XM_005265767.3:c.*2090G>A (SRD5A3) | XP_005265824.1:n.*2090G>A | |
| NM_024592.5:c.*2090G>A (SRD5A3) MANE Select | NP_078868.1:n.*2090G>A |