Canonical Allele Identifier: CA2176813001
Gene: CYP19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51325511T>G , CM000677.2:g.51325511T>G GRCh38
NC_000015.9:g.51617708T>G , CM000677.1:g.51617708T>G GRCh37
NC_000015.8:g.49405000T>G NCBI36
NG_007982.1:g.18088A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396402.6:c.-39+12984A>C MANE Select ENSP00000379683.1:n.-39+12984A>C
ENST00000396402.5:c.-39+12984A>C ENSP00000379683.1:n.-39+12984A>C
ENST00000396404.8:c.-147-1587A>C ENSP00000379685.4:n.-147-1587A>C
ENST00000405011.6:c.-194+12984A>C ENSP00000384389.2:n.-194+12984A>C
ENST00000439712.6:c.-283+12984A>C ENSP00000390614.2:n.-283+12984A>C
ENST00000453807.6:c.-230+12984A>C ENSP00000391139.2:n.-230+12984A>C
ENST00000492852.1:n.88-5138A>C
ENST00000557858.5:c.-39+12984A>C ENSP00000452627.1:n.-39+12984A>C
ENST00000557934.5:c.-39+12984A>C ENSP00000454004.1:n.-39+12984A>C
ENST00000558328.5:c.-39+12926A>C ENSP00000453280.1:n.-39+12926A>C
ENST00000559980.5:c.-283+12307A>C ENSP00000452872.1:n.-283+12307A>C
ENST00000561075.5:c.-39+12984A>C ENSP00000454039.1:n.-39+12984A>C
NM_000103.3:c.-39+12984A>C NP_000094.2:n.-39+12984A>C
NM_031226.2:c.-147-1587A>C NP_112503.1:n.-147-1587A>C
NM_000103.4:c.-39+12984A>C MANE Select NP_000094.2:n.-39+12984A>C
NM_031226.3:c.-147-1587A>C NP_112503.1:n.-147-1587A>C