Canonical Allele Identifier: CA287393632
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1509123
gnomAD v4: 17-6780559-C-A
MyVariant Identifiers: chr17:g.6683878C>A (hg19) chr17:g.6780559C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780559C>A , CM000679.2:g.6780559C>A GRCh38
NC_000017.10:g.6683878C>A , CM000679.1:g.6683878C>A GRCh37
NC_000017.9:g.6624602C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321535.5:c.691C>A MANE Select ENSP00000321386.4:p.Leu231Ile
ENST00000321535.4:c.691C>A ENSP00000321386.4:p.Leu231Ile
NM_153230.2:c.691C>A NP_694962.1:p.Leu231Ile
XM_011523697.1:c.691C>A XP_011521999.1:p.Leu231Ile
XR_243544.3:n.869C>A
NM_153230.3:c.691C>A MANE Select NP_694962.1:p.Leu231Ile
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