Canonical Allele Identifier: CA1134534
Community Standard Title: NM_025207.5(FLAD1):c.1310G>A (p.Arg437His)
Gene: FLAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154990203G>A , CM000663.2:g.154990203G>A GRCh38
NC_000001.10:g.154962679G>A , CM000663.1:g.154962679G>A GRCh37
NC_000001.9:g.153229303G>A NCBI36
NG_042310.1:g.11910G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025207.5:c.1310G>A MANE Select NP_079483.3:p.Arg437His
ENST00000292180.8:c.1310G>A MANE Select ENSP00000292180.3:p.Arg437His
NM_001184891.1:c.1019G>A NP_001171820.1:p.Arg340His
NM_001184891.2:c.1019G>A NP_001171820.1:p.Arg340His
NM_025207.4:c.1310G>A NP_079483.3:p.Arg437His
NM_201398.2:c.1019G>A NP_958800.1:p.Arg340His
NM_201398.3:c.1019G>A NP_958800.1:p.Arg340His
ENST00000292180.7:c.1310G>A ENSP00000292180.3:p.Arg437His
ENST00000295530.6:c.361G>A ENSP00000295530.2:p.Ala121Thr
ENST00000315144.14:c.1019G>A ENSP00000317296.10:p.Arg340His
ENST00000368428.1:c.-149G>A ENSP00000357413.1:n.-149G>A
ENST00000368432.5:c.1019G>A ENSP00000357417.1:p.Arg340His
ENST00000368433.5:c.1310G>A ENSP00000357418.1:p.Arg437His
ENST00000489992.5:n.310G>A
XM_005245502.2:c.1019G>A XP_005245559.1:p.Arg340His
XM_005245503.2:c.509G>A XP_005245560.1:p.Arg170His
XR_241098.3:n.1080G>A