Canonical Allele Identifier: CA397760814
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs752994888
gnomAD v3: 17-6780382-G-T
gnomAD v4: 17-6780382-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780382G>T , CM000679.2:g.6780382G>T GRCh38
NC_000017.10:g.6683701G>T , CM000679.1:g.6683701G>T GRCh37
NC_000017.9:g.6624425G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.514G>T MANE Select ENSP00000321386.4:p.Ala172Ser
ENST00000321535.4:c.514G>T ENSP00000321386.4:p.Ala172Ser
NM_153230.2:c.514G>T NP_694962.1:p.Ala172Ser
XM_011523697.1:c.514G>T XP_011521999.1:p.Ala172Ser
XR_243544.3:n.692G>T
NM_153230.3:c.514G>T MANE Select NP_694962.1:p.Ala172Ser