Canonical Allele Identifier: CA2580604321

Gene: CYP19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51329528T>A , CM000677.2:g.51329528T>A	GRCh38
NC_000015.9:g.51621725T>A , CM000677.1:g.51621725T>A	GRCh37
NC_000015.8:g.49409017T>A	NCBI36
NG_007982.1:g.14071A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000103.4:c.-39+8967A>T MANE Select	NP_000094.2:n.-39+8967A>T
ENST00000396402.6:c.-39+8967A>T MANE Select	ENSP00000379683.1:n.-39+8967A>T
NM_000103.3:c.-39+8967A>T	NP_000094.2:n.-39+8967A>T
NM_031226.2:c.-147-5604A>T	NP_112503.1:n.-147-5604A>T
NM_031226.3:c.-147-5604A>T	NP_112503.1:n.-147-5604A>T
ENST00000396402.5:c.-39+8967A>T	ENSP00000379683.1:n.-39+8967A>T
ENST00000396404.8:c.-147-5604A>T	ENSP00000379685.4:n.-147-5604A>T
ENST00000405011.6:c.-194+8967A>T	ENSP00000384389.2:n.-194+8967A>T
ENST00000439712.6:c.-283+8967A>T	ENSP00000390614.2:n.-283+8967A>T
ENST00000453807.6:c.-230+8967A>T	ENSP00000391139.2:n.-230+8967A>T
ENST00000492852.1:n.87+8967A>T
ENST00000557858.5:c.-39+8967A>T	ENSP00000452627.1:n.-39+8967A>T
ENST00000557934.5:c.-39+8967A>T	ENSP00000454004.1:n.-39+8967A>T
ENST00000558328.5:c.-39+8909A>T	ENSP00000453280.1:n.-39+8909A>T
ENST00000559980.5:c.-283+8290A>T	ENSP00000452872.1:n.-283+8290A>T
ENST00000561075.5:c.-39+8967A>T	ENSP00000454039.1:n.-39+8967A>T