Canonical Allele Identifier: CA8332462
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs10401001
gnomAD v2: 17-6683871-C-A
gnomAD v3: 17-6780552-C-A
gnomAD v4: 17-6780552-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780552C>A , CM000679.2:g.6780552C>A GRCh38
NC_000017.10:g.6683871C>A , CM000679.1:g.6683871C>A GRCh37
NC_000017.9:g.6624595C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.684C>A MANE Select ENSP00000321386.4:p.Ser228=
ENST00000321535.4:c.684C>A ENSP00000321386.4:p.Ser228=
NM_153230.2:c.684C>A NP_694962.1:p.Ser228=
XM_011523697.1:c.684C>A XP_011521999.1:p.Ser228=
XR_243544.3:n.862C>A
NM_153230.3:c.684C>A MANE Select NP_694962.1:p.Ser228=