Canonical Allele Identifier: CA1134389
Community Standard Title: NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)
Gene: FLAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154988477C>T , CM000663.2:g.154988477C>T GRCh38
NC_000001.10:g.154960953C>T , CM000663.1:g.154960953C>T GRCh37
NC_000001.9:g.153227577C>T NCBI36
NG_042310.1:g.10184C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025207.5:c.745C>T MANE Select NP_079483.3:p.Arg249Ter
ENST00000292180.8:c.745C>T MANE Select ENSP00000292180.3:p.Arg249Ter
NM_001184891.1:c.454C>T NP_001171820.1:p.Arg152Ter
NM_001184891.2:c.454C>T NP_001171820.1:p.Arg152Ter
NM_001184892.1:c.448C>T NP_001171821.1:p.Arg150Ter
NM_001184892.2:c.448C>T NP_001171821.1:p.Arg150Ter
NM_025207.4:c.745C>T NP_079483.3:p.Arg249Ter
NM_201398.2:c.454C>T NP_958800.1:p.Arg152Ter
NM_201398.3:c.454C>T NP_958800.1:p.Arg152Ter
ENST00000292180.7:c.745C>T ENSP00000292180.3:p.Arg249Ter
ENST00000295530.6:c.-57C>T ENSP00000295530.2:n.-57C>T
ENST00000315144.14:c.454C>T ENSP00000317296.10:p.Arg152Ter
ENST00000368431.7:c.448C>T ENSP00000357416.3:p.Arg150Ter
ENST00000368432.5:c.454C>T ENSP00000357417.1:p.Arg152Ter
ENST00000368433.5:c.745C>T ENSP00000357418.1:p.Arg249Ter
XM_005245502.2:c.454C>T XP_005245559.1:p.Arg152Ter
XM_005245503.2:c.-57C>T XP_005245560.1:n.-57C>T
XM_006711559.2:c.454C>T XP_006711622.1:p.Arg152Ter
XR_241098.3:n.663C>T