Canonical Allele Identifier: CA270573269

Gene: CYP19A1

Linked Data

• dbSNP Id: rs955424281
• gnomAD v3: 15-51338575-G-A
• gnomAD v4: 15-51338575-G-A
• COSMIC: COSN22052223 ; COSN24113853
• MyVariant Identifiers: chr15:g.51630772G>A (hg19) ; chr15:g.51338575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51338575G>A , CM000677.2:g.51338575G>A	GRCh38
NC_000015.9:g.51630772G>A , CM000677.1:g.51630772G>A	GRCh37
NC_000015.8:g.49418064G>A	NCBI36
NG_007982.1:g.5024C>T
NG_054933.1:g.2060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396402.6:c.-119C>T MANE Select	ENSP00000379683.1:n.-119C>T
ENST00000396402.5:c.-119C>T	ENSP00000379683.1:n.-119C>T
ENST00000396404.8:c.-228C>T	ENSP00000379685.4:n.-228C>T
ENST00000405011.6:c.-274C>T	ENSP00000384389.2:n.-274C>T
ENST00000439712.6:c.-363C>T	ENSP00000390614.2:n.-363C>T
ENST00000453807.6:c.-310C>T	ENSP00000391139.2:n.-310C>T
ENST00000492852.1:n.7C>T
ENST00000557858.5:c.-119C>T	ENSP00000452627.1:n.-119C>T
ENST00000557934.5:c.-119C>T	ENSP00000454004.1:n.-119C>T
ENST00000558328.5:c.-177C>T	ENSP00000453280.1:n.-177C>T
ENST00000559980.5:c.-454C>T	ENSP00000452872.1:n.-454C>T
ENST00000561075.5:c.-119C>T	ENSP00000454039.1:n.-119C>T
NM_000103.3:c.-119C>T	NP_000094.2:n.-119C>T
NM_031226.2:c.-228C>T	NP_112503.1:n.-228C>T
NM_000103.4:c.-119C>T MANE Select	NP_000094.2:n.-119C>T
NM_031226.3:c.-228C>T	NP_112503.1:n.-228C>T