Canonical Allele Identifier: CA397762360
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1197910422
gnomAD v2: 17-6684001-T-A
gnomAD v4: 17-6780682-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780682T>A , CM000679.2:g.6780682T>A GRCh38
NC_000017.10:g.6684001T>A , CM000679.1:g.6684001T>A GRCh37
NC_000017.9:g.6624725T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.814T>A MANE Select ENSP00000321386.4:p.Ser272Thr
ENST00000321535.4:c.814T>A ENSP00000321386.4:p.Ser272Thr
NM_153230.2:c.814T>A NP_694962.1:p.Ser272Thr
XM_011523697.1:c.814T>A XP_011521999.1:p.Ser272Thr
XR_243544.3:n.992T>A
NM_153230.3:c.814T>A MANE Select NP_694962.1:p.Ser272Thr