Canonical Allele Identifier: CA343186535
Community Standard Title: NM_001002294.3(FMO3):c.769G>C (p.Val257Leu)
Gene: FMO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171110939G>C , CM000663.2:g.171110939G>C GRCh38
NC_000001.10:g.171080080G>C , CM000663.1:g.171080080G>C GRCh37
NC_000001.9:g.169346704G>C NCBI36
NG_012690.1:g.25063G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001002294.3:c.769G>C MANE Select NP_001002294.1:p.Val257Leu
ENST00000367755.9:c.769G>C MANE Select ENSP00000356729.4:p.Val257Leu
NM_001002294.2:c.769G>C NP_001002294.1:p.Val257Leu
NM_001319173.1:c.709G>C NP_001306102.1:p.Val237Leu
NM_001319173.2:c.709G>C NP_001306102.1:p.Val237Leu
NM_001319174.1:c.580G>C NP_001306103.1:p.Val194Leu
NM_001319174.2:c.580G>C NP_001306103.1:p.Val194Leu
NM_006894.5:c.769G>C NP_008825.4:p.Val257Leu
NM_006894.6:c.769G>C NP_008825.4:p.Val257Leu
ENST00000367755.8:c.769G>C ENSP00000356729.4:p.Val257Leu
XM_005245044.1:c.580G>C XP_005245101.1:p.Val194Leu
XM_011509345.1:c.709G>C XP_011507647.1:p.Val237Leu
XM_011509345.3:c.709G>C XP_011507647.1:p.Val237Leu
XM_011509346.1:c.709G>C XP_011507648.1:p.Val237Leu
XM_024454365.1:c.80+2718G>C XP_024310133.1:n.80+2718G>C