Linked Data
dbSNP Id:
rs36073878
gnomAD v2:
15-51611709-T-G
gnomAD v3:
15-51319512-T-G
gnomAD v4:
15-51319512-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51319512T>G , CM000677.2:g.51319512T>G | GRCh38 |
| NC_000015.9:g.51611709T>G , CM000677.1:g.51611709T>G | GRCh37 |
| NC_000015.8:g.49399001T>G | NCBI36 |
| NG_007982.1:g.24087A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396402.6:c.-39+18983A>C (CYP19A1) MANE Select | ENSP00000379683.1:n.-39+18983A>C | |
| ENST00000260433.6:c.-39+4304A>C (CYP19A1) | ENSP00000260433.2:n.-39+4304A>C | |
| ENST00000396402.5:c.-39+18983A>C (CYP19A1) | ENSP00000379683.1:n.-39+18983A>C | |
| ENST00000396404.8:c.-39+4304A>C (CYP19A1) | ENSP00000379685.4:n.-39+4304A>C | |
| ENST00000405011.6:c.-194+18983A>C (CYP19A1) | ENSP00000384389.2:n.-194+18983A>C | |
| ENST00000439712.6:c.-283+18983A>C (CYP19A1) | ENSP00000390614.2:n.-283+18983A>C | |
| ENST00000453807.6:c.-230+18983A>C (CYP19A1) | ENSP00000391139.2:n.-230+18983A>C | |
| ENST00000492852.1:n.234-513A>C (CYP19A1) | ||
| ENST00000557858.5:c.-39+18983A>C (CYP19A1) | ENSP00000452627.1:n.-39+18983A>C | |
| ENST00000557934.5:c.-39+18983A>C (CYP19A1) | ENSP00000454004.1:n.-39+18983A>C | |
| ENST00000558328.5:c.-39+18925A>C (CYP19A1) | ENSP00000453280.1:n.-39+18925A>C | |
| ENST00000559980.5:c.-283+18306A>C (CYP19A1) | ENSP00000452872.1:n.-283+18306A>C | |
| ENST00000561075.5:c.-39+18983A>C (CYP19A1) | ENSP00000454039.1:n.-39+18983A>C | |
| NM_000103.3:c.-39+18983A>C (CYP19A1) | NP_000094.2:n.-39+18983A>C | |
| NM_031226.2:c.-39+4304A>C (CYP19A1) | NP_112503.1:n.-39+4304A>C | |
| XR_932224.1:n.3218-1437T>G (PIRC66) | ||
| XR_932226.1:n.2511-1437T>G (PIRC66) | ||
| XR_932229.1:n.5995-1437T>G (PIRC66) | ||
| XR_932230.1:n.294-1437T>G (PIRC66) | ||
| NM_001347248.1:c.-39+4304A>C (CYP19A1) | NP_001334177.1:n.-39+4304A>C | |
| NM_000103.4:c.-39+18983A>C (CYP19A1) MANE Select | NP_000094.2:n.-39+18983A>C | |
| NM_031226.3:c.-39+4304A>C (CYP19A1) | NP_112503.1:n.-39+4304A>C |