Canonical Allele Identifier: CA397761648
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1298170830
gnomAD v3: 17-6780503-A-T
gnomAD v4: 17-6780503-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780503A>T , CM000679.2:g.6780503A>T GRCh38
NC_000017.10:g.6683822A>T , CM000679.1:g.6683822A>T GRCh37
NC_000017.9:g.6624546A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.635A>T MANE Select ENSP00000321386.4:p.Asn212Ile
ENST00000321535.4:c.635A>T ENSP00000321386.4:p.Asn212Ile
NM_153230.2:c.635A>T NP_694962.1:p.Asn212Ile
XM_011523697.1:c.635A>T XP_011521999.1:p.Asn212Ile
XR_243544.3:n.813A>T
NM_153230.3:c.635A>T MANE Select NP_694962.1:p.Asn212Ile