Linked Data
ClinVar Variation Id:
1170825
ClinVar RCV Id:
RCV001523524
dbSNP Id:
rs10459592
gnomAD v2:
15-51536141-T-G
gnomAD v3:
15-51243944-T-G
gnomAD v4:
15-51243944-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51243944T>G , CM000677.2:g.51243944T>G | GRCh38 |
| NC_000015.9:g.51536141T>G , CM000677.1:g.51536141T>G | GRCh37 |
| NC_000015.8:g.49323433T>G | NCBI36 |
| NG_007982.1:g.99655A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396402.6:c.-38-994A>C (CYP19A1) MANE Select | ENSP00000379683.1:n.-38-994A>C | |
| ENST00000260433.6:c.-38-994A>C (CYP19A1) | ENSP00000260433.2:n.-38-994A>C | |
| ENST00000396402.5:c.-38-994A>C (CYP19A1) | ENSP00000379683.1:n.-38-994A>C | |
| ENST00000396404.8:c.-38-994A>C (CYP19A1) | ENSP00000379685.4:n.-38-994A>C | |
| ENST00000405011.6:c.-38-994A>C (CYP19A1) | ENSP00000384389.2:n.-38-994A>C | |
| ENST00000439712.6:c.-38-994A>C (CYP19A1) | ENSP00000390614.2:n.-38-994A>C | |
| ENST00000453807.6:c.-38-994A>C (CYP19A1) | ENSP00000391139.2:n.-38-994A>C | |
| ENST00000557858.5:c.-38-994A>C (CYP19A1) | ENSP00000452627.1:n.-38-994A>C | |
| ENST00000557934.5:c.-38-994A>C (CYP19A1) | ENSP00000454004.1:n.-38-994A>C | |
| ENST00000558328.5:c.-38-994A>C (CYP19A1) | ENSP00000453280.1:n.-38-994A>C | |
| ENST00000559646.1:c.-38-994A>C (CYP19A1) | ENSP00000453318.1:n.-38-994A>C | |
| ENST00000559980.5:c.-38-994A>C (CYP19A1) | ENSP00000452872.1:n.-38-994A>C | |
| ENST00000561075.5:c.-38-994A>C (CYP19A1) | ENSP00000454039.1:n.-38-994A>C | |
| NM_000103.3:c.-38-994A>C (CYP19A1) | NP_000094.2:n.-38-994A>C | |
| NM_031226.2:c.-38-994A>C (CYP19A1) | NP_112503.1:n.-38-994A>C | |
| XM_005254191.1:c.-38-994A>C (CYP19A1) | XP_005254248.1:n.-38-994A>C | |
| XR_932222.1:n.99-34039T>G (PIRC66) | ||
| NM_001347248.1:c.-38-994A>C (CYP19A1) | NP_001334177.1:n.-38-994A>C | |
| NM_001347249.1:c.-38-994A>C (CYP19A1) | NP_001334178.1:n.-38-994A>C | |
| NM_001347250.1:c.-38-994A>C (CYP19A1) | NP_001334179.1:n.-38-994A>C | |
| NM_001347251.1:c.-38-994A>C (CYP19A1) | NP_001334180.1:n.-38-994A>C | |
| NM_001347252.1:c.-38-994A>C (CYP19A1) | NP_001334181.1:n.-38-994A>C | |
| NM_001347253.1:c.-38-994A>C (CYP19A1) | NP_001334182.1:n.-38-994A>C | |
| NR_146310.1:n.195-34039T>G (MIR4713HG) | ||
| NM_000103.4:c.-38-994A>C (CYP19A1) MANE Select | NP_000094.2:n.-38-994A>C | |
| NM_001347249.2:c.-38-994A>C (CYP19A1) | NP_001334178.1:n.-38-994A>C | |
| NM_031226.3:c.-38-994A>C (CYP19A1) | NP_112503.1:n.-38-994A>C | |
| NM_001347250.2:c.-38-994A>C (CYP19A1) | NP_001334179.1:n.-38-994A>C | |
| NM_001347251.2:c.-38-994A>C (CYP19A1) | NP_001334180.1:n.-38-994A>C | |
| NM_001347252.2:c.-38-994A>C (CYP19A1) | NP_001334181.1:n.-38-994A>C | |
| NM_001347253.2:c.-38-994A>C (CYP19A1) | NP_001334182.1:n.-38-994A>C |