Canonical Allele Identifier: CA257483

Gene: FMO3

Linked Data

• ClinVar Variation Id: 16307
• ClinVar RCV Id: RCV000017700
• dbSNP Id: rs72549321
• gnomAD v2: 1-171072947-G-A
• gnomAD v4: 1-171103806-G-A
• MyVariant Identifiers: chr1:g.171072947G>A (hg19) ; chr1:g.171103806G>A (hg38)
• PubMed: PMID:10479479

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171103806G>A , CM000663.2:g.171103806G>A	GRCh38
NC_000001.10:g.171072947G>A , CM000663.1:g.171072947G>A	GRCh37
NC_000001.9:g.169339571G>A	NCBI36
NG_012690.1:g.17930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367755.9:c.154G>A MANE Select	ENSP00000356729.4:p.Ala52Thr
ENST00000367755.8:c.154G>A	ENSP00000356729.4:p.Ala52Thr
ENST00000472784.5:c.*134G>A	ENSP00000476963.1:n.*134G>A
ENST00000478457.1:n.467G>A
ENST00000479749.1:c.154G>A	ENSP00000477451.1:p.Ala52Thr
NM_001002294.2:c.154G>A	NP_001002294.1:p.Ala52Thr
NM_006894.5:c.154G>A	NP_008825.4:p.Ala52Thr
XM_005245044.1:c.133-3869G>A	XP_005245101.1:n.133-3869G>A
XM_011509345.1:c.94G>A	XP_011507647.1:p.Ala32Thr
XM_011509346.1:c.94G>A	XP_011507648.1:p.Ala32Thr
NM_001319173.1:c.94G>A	NP_001306102.1:p.Ala32Thr
NM_001319174.1:c.133-3869G>A	NP_001306103.1:n.133-3869G>A
XM_011509345.3:c.94G>A	XP_011507647.1:p.Ala32Thr
NM_001002294.3:c.154G>A MANE Select	NP_001002294.1:p.Ala52Thr
NM_001319173.2:c.94G>A	NP_001306102.1:p.Ala32Thr
NM_001319174.2:c.133-3869G>A	NP_001306103.1:n.133-3869G>A
NM_006894.6:c.154G>A	NP_008825.4:p.Ala52Thr