Canonical Allele Identifier: CA8332530
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs377424506
ExAC: 17:6684175 A / T
gnomAD v2: 17-6684175-A-T
gnomAD v3: 17-6780856-A-T
gnomAD v4: 17-6780856-A-T
MyVariant Identifiers: chr17:g.6684175A>T (hg19) chr17:g.6780856A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780856A>T , CM000679.2:g.6780856A>T GRCh38
NC_000017.10:g.6684175A>T , CM000679.1:g.6684175A>T GRCh37
NC_000017.9:g.6624899A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.988A>T MANE Select ENSP00000321386.4:p.Ile330Leu
ENST00000321535.4:c.988A>T ENSP00000321386.4:p.Ile330Leu
NM_153230.2:c.988A>T NP_694962.1:p.Ile330Leu
XM_011523697.1:c.988A>T XP_011521999.1:p.Ile330Leu
XR_243544.3:n.1166A>T
NM_153230.3:c.988A>T MANE Select NP_694962.1:p.Ile330Leu
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