Canonical Allele Identifier: CA414443212
Community Standard Title: NM_000133.4(F9):c.757G>A (p.Gly253Arg)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139560774G>A , CM000685.2:g.139560774G>A GRCh38
NC_000023.10:g.138642933G>A , CM000685.1:g.138642933G>A GRCh37
NC_000023.9:g.138470599G>A NCBI36
NG_007994.1:g.35039G>A , LRG_556:g.35039G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.757G>A MANE Select NP_000124.1:p.Gly253Arg
ENST00000218099.7:c.757G>A MANE Select ENSP00000218099.2:p.Gly253Arg
NM_000133.3:c.757G>A , LRG_556t1:c.757G>A NP_000124.1:p.Gly253Arg
NM_001313913.1:c.643G>A NP_001300842.1:p.Gly215Arg
NM_001313913.2:c.643G>A NP_001300842.1:p.Gly215Arg
ENST00000218099.6:c.757G>A ENSP00000218099.2:p.Gly253Arg
ENST00000394090.2:c.643G>A ENSP00000377650.2:p.Gly215Arg
ENST00000643157.1:n.1424G>A
XM_005262397.3:c.628G>A XP_005262454.1:p.Gly210Arg
XM_005262397.4:c.628G>A XP_005262454.1:p.Gly210Arg