Canonical Allele Identifier: CA16042890
Gene: CYP19A1 HGNC NCBI
PIRC66 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373729
ClinVar RCV Id: RCV000414127
dbSNP Id: rs1057518574

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51227850A>G , CM000677.2:g.51227850A>G GRCh38
NC_000015.9:g.51520047A>G , CM000677.1:g.51520047A>G GRCh37
NC_000015.8:g.49307339A>G NCBI36
NG_007982.1:g.115749T>C

Transcript Alleles

HGVS Amino-acid change
NM_000103.3:c.380T>C (CYP19A1) VV NP_000094.2:p.Met127Thr
NM_031226.2:c.380T>C (CYP19A1) VV NP_112503.1:p.Met127Thr
XM_005254190.1:c.380T>C (CYP19A1) XP_005254247.1:p.Met127Thr
XM_005254191.1:c.380T>C (CYP19A1) XP_005254248.1:p.Met127Thr
XR_932222.1:n.99-50133A>G (PIRC66)
NM_001347248.1:c.380T>C (CYP19A1) VV NP_001334177.1:p.Met127Thr
NM_001347249.1:c.380T>C (CYP19A1) VV NP_001334178.1:p.Met127Thr
NM_001347250.1:c.380T>C (CYP19A1) VV NP_001334179.1:p.Met127Thr
NM_001347251.1:c.380T>C (CYP19A1) VV NP_001334180.1:p.Met127Thr
NM_001347252.1:c.380T>C (CYP19A1) VV NP_001334181.1:p.Met127Thr
NM_001347253.1:c.380T>C (CYP19A1) VV NP_001334182.1:p.Met127Thr
NM_001347254.1:c.380T>C (CYP19A1) VV NP_001334183.1:p.Met127Thr
NM_001347255.1:c.380T>C (CYP19A1) VV NP_001334184.1:p.Met127Thr
NM_001347256.1:c.380T>C (CYP19A1) VV NP_001334185.1:p.Met127Thr
NR_146310.1:n.195-50133A>G
ENST00000260433.6:c.380T>C ENSP00000260433.2:p.Met127Thr
ENST00000396402.5:c.380T>C ENSP00000379683.1:p.Met127Thr
ENST00000396404.8:c.380T>C ENSP00000379685.4:p.Met127Thr
ENST00000405011.6:c.380T>C ENSP00000384389.2:p.Met127Thr
ENST00000405913.7:c.380T>C ENSP00000383930.3:p.Met127Thr
ENST00000439712.6:c.380T>C ENSP00000390614.2:p.Met127Thr
ENST00000453807.6:c.380T>C ENSP00000391139.2:p.Met127Thr
ENST00000557858.5:c.380T>C ENSP00000452627.1:p.Met127Thr
ENST00000557934.5:c.380T>C ENSP00000454004.1:p.Met127Thr
ENST00000558328.5:c.380T>C ENSP00000453280.1:p.Met127Thr
ENST00000559646.1:c.380T>C ENSP00000453318.1:p.Met127Thr
ENST00000559878.5:c.380T>C ENSP00000453149.1:p.Met127Thr
ENST00000559980.5:c.380T>C ENSP00000452872.1:p.Met127Thr
ENST00000561075.5:c.380T>C ENSP00000454039.1:p.Met127Thr