Canonical Allele Identifier: CA397761360
Gene: FBXO39 HGNC NCBI

Linked Data

gnomAD v4: 17-6780459-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780459G>C , CM000679.2:g.6780459G>C GRCh38
NC_000017.10:g.6683778G>C , CM000679.1:g.6683778G>C GRCh37
NC_000017.9:g.6624502G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.591G>C MANE Select ENSP00000321386.4:p.Glu197Asp
ENST00000321535.4:c.591G>C ENSP00000321386.4:p.Glu197Asp
NM_153230.2:c.591G>C NP_694962.1:p.Glu197Asp
XM_011523697.1:c.591G>C XP_011521999.1:p.Glu197Asp
XR_243544.3:n.769G>C
NM_153230.3:c.591G>C MANE Select NP_694962.1:p.Glu197Asp