Canonical Allele Identifier: CA397760871
Gene: FBXO39 HGNC NCBI

Linked Data

gnomAD v4: 17-6780392-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780392C>T , CM000679.2:g.6780392C>T GRCh38
NC_000017.10:g.6683711C>T , CM000679.1:g.6683711C>T GRCh37
NC_000017.9:g.6624435C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.524C>T MANE Select ENSP00000321386.4:p.Thr175Ile
ENST00000321535.4:c.524C>T ENSP00000321386.4:p.Thr175Ile
NM_153230.2:c.524C>T NP_694962.1:p.Thr175Ile
XM_011523697.1:c.524C>T XP_011521999.1:p.Thr175Ile
XR_243544.3:n.702C>T
NM_153230.3:c.524C>T MANE Select NP_694962.1:p.Thr175Ile