Canonical Allele Identifier: CA969774642

Gene: CYP19A1 PIRC66

Linked Data

• dbSNP Id: rs2036490062
• gnomAD v3: 15-51319545-C-A
• gnomAD v4: 15-51319545-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51319545C>A , CM000677.2:g.51319545C>A	GRCh38
NC_000015.9:g.51611742C>A , CM000677.1:g.51611742C>A	GRCh37
NC_000015.8:g.49399034C>A	NCBI36
NG_007982.1:g.24054G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396402.6:c.-39+18950G>T (CYP19A1) MANE Select	ENSP00000379683.1:n.-39+18950G>T
ENST00000260433.6:c.-39+4271G>T (CYP19A1)	ENSP00000260433.2:n.-39+4271G>T
ENST00000396402.5:c.-39+18950G>T (CYP19A1)	ENSP00000379683.1:n.-39+18950G>T
ENST00000396404.8:c.-39+4271G>T (CYP19A1)	ENSP00000379685.4:n.-39+4271G>T
ENST00000405011.6:c.-194+18950G>T (CYP19A1)	ENSP00000384389.2:n.-194+18950G>T
ENST00000439712.6:c.-283+18950G>T (CYP19A1)	ENSP00000390614.2:n.-283+18950G>T
ENST00000453807.6:c.-230+18950G>T (CYP19A1)	ENSP00000391139.2:n.-230+18950G>T
ENST00000492852.1:n.234-546G>T (CYP19A1)
ENST00000557858.5:c.-39+18950G>T (CYP19A1)	ENSP00000452627.1:n.-39+18950G>T
ENST00000557934.5:c.-39+18950G>T (CYP19A1)	ENSP00000454004.1:n.-39+18950G>T
ENST00000558328.5:c.-39+18892G>T (CYP19A1)	ENSP00000453280.1:n.-39+18892G>T
ENST00000559980.5:c.-283+18273G>T (CYP19A1)	ENSP00000452872.1:n.-283+18273G>T
ENST00000561075.5:c.-39+18950G>T (CYP19A1)	ENSP00000454039.1:n.-39+18950G>T
NM_000103.3:c.-39+18950G>T (CYP19A1)	NP_000094.2:n.-39+18950G>T
NM_031226.2:c.-39+4271G>T (CYP19A1)	NP_112503.1:n.-39+4271G>T
XR_932224.1:n.3218-1404C>A (PIRC66)
XR_932226.1:n.2511-1404C>A (PIRC66)
XR_932229.1:n.5995-1404C>A (PIRC66)
XR_932230.1:n.294-1404C>A (PIRC66)
NM_001347248.1:c.-39+4271G>T (CYP19A1)	NP_001334177.1:n.-39+4271G>T
NM_000103.4:c.-39+18950G>T (CYP19A1) MANE Select	NP_000094.2:n.-39+18950G>T
NM_031226.3:c.-39+4271G>T (CYP19A1)	NP_112503.1:n.-39+4271G>T