Canonical Allele Identifier: CA397763027
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1193811495
gnomAD v2: 17-6684184-C-A
gnomAD v3: 17-6780865-C-A
gnomAD v4: 17-6780865-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780865C>A , CM000679.2:g.6780865C>A GRCh38
NC_000017.10:g.6684184C>A , CM000679.1:g.6684184C>A GRCh37
NC_000017.9:g.6624908C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.997C>A MANE Select ENSP00000321386.4:p.Leu333Met
ENST00000321535.4:c.997C>A ENSP00000321386.4:p.Leu333Met
NM_153230.2:c.997C>A NP_694962.1:p.Leu333Met
XM_011523697.1:c.997C>A XP_011521999.1:p.Leu333Met
XR_243544.3:n.1175C>A
NM_153230.3:c.997C>A MANE Select NP_694962.1:p.Leu333Met