Canonical Allele Identifier: CA397761673
Gene: FBXO39 HGNC NCBI

Linked Data

gnomAD v4: 17-6780508-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780508C>A , CM000679.2:g.6780508C>A GRCh38
NC_000017.10:g.6683827C>A , CM000679.1:g.6683827C>A GRCh37
NC_000017.9:g.6624551C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.640C>A MANE Select ENSP00000321386.4:p.Pro214Thr
ENST00000321535.4:c.640C>A ENSP00000321386.4:p.Pro214Thr
NM_153230.2:c.640C>A NP_694962.1:p.Pro214Thr
XM_011523697.1:c.640C>A XP_011521999.1:p.Pro214Thr
XR_243544.3:n.818C>A
NM_153230.3:c.640C>A MANE Select NP_694962.1:p.Pro214Thr