Canonical Allele Identifier: CA2841384711
Gene: CYP19A1 HGNC NCBI
PIRC66 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51321364G>T , CM000677.2:g.51321364G>T GRCh38
NC_000015.9:g.51613561G>T , CM000677.1:g.51613561G>T GRCh37
NC_000015.8:g.49400853G>T NCBI36
NG_007982.1:g.22235C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396402.6:c.-39+17131C>A (CYP19A1) MANE Select ENSP00000379683.1:n.-39+17131C>A
ENST00000260433.6:c.-39+2452C>A (CYP19A1) ENSP00000260433.2:n.-39+2452C>A
ENST00000396402.5:c.-39+17131C>A (CYP19A1) ENSP00000379683.1:n.-39+17131C>A
ENST00000396404.8:c.-39+2452C>A (CYP19A1) ENSP00000379685.4:n.-39+2452C>A
ENST00000405011.6:c.-194+17131C>A (CYP19A1) ENSP00000384389.2:n.-194+17131C>A
ENST00000439712.6:c.-283+17131C>A (CYP19A1) ENSP00000390614.2:n.-283+17131C>A
ENST00000453807.6:c.-230+17131C>A (CYP19A1) ENSP00000391139.2:n.-230+17131C>A
ENST00000492852.1:n.88-991C>A (CYP19A1)
ENST00000557858.5:c.-39+17131C>A (CYP19A1) ENSP00000452627.1:n.-39+17131C>A
ENST00000557934.5:c.-39+17131C>A (CYP19A1) ENSP00000454004.1:n.-39+17131C>A
ENST00000558328.5:c.-39+17073C>A (CYP19A1) ENSP00000453280.1:n.-39+17073C>A
ENST00000559980.5:c.-283+16454C>A (CYP19A1) ENSP00000452872.1:n.-283+16454C>A
ENST00000561075.5:c.-39+17131C>A (CYP19A1) ENSP00000454039.1:n.-39+17131C>A
NM_000103.3:c.-39+17131C>A (CYP19A1) NP_000094.2:n.-39+17131C>A
NM_031226.2:c.-39+2452C>A (CYP19A1) NP_112503.1:n.-39+2452C>A
XR_932224.1:n.3309-245G>T (PIRC66)
XR_932226.1:n.2602-245G>T (PIRC66)
XR_932229.1:n.6086-245G>T (PIRC66)
XR_932230.1:n.385-245G>T (PIRC66)
NM_001347248.1:c.-39+2452C>A (CYP19A1) NP_001334177.1:n.-39+2452C>A
XR_002957708.1:n.365-245G>T
NM_000103.4:c.-39+17131C>A (CYP19A1) MANE Select NP_000094.2:n.-39+17131C>A
NM_031226.3:c.-39+2452C>A (CYP19A1) NP_112503.1:n.-39+2452C>A