Canonical Allele Identifier: CA10529740
Community Standard Title: NM_000133.4(F9):c.130C>T (p.Pro44Ser)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139537051C>T , CM000685.2:g.139537051C>T GRCh38
NC_000023.10:g.138619210C>T , CM000685.1:g.138619210C>T GRCh37
NC_000023.9:g.138446876C>T NCBI36
NG_007994.1:g.11316C>T , LRG_556:g.11316C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.130C>T MANE Select NP_000124.1:p.Pro44Ser
ENST00000218099.7:c.130C>T MANE Select ENSP00000218099.2:p.Pro44Ser
NM_000133.3:c.130C>T , LRG_556t1:c.130C>T NP_000124.1:p.Pro44Ser
NM_001313913.1:c.130C>T NP_001300842.1:p.Pro44Ser
NM_001313913.2:c.130C>T NP_001300842.1:p.Pro44Ser
ENST00000218099.6:c.130C>T ENSP00000218099.2:p.Pro44Ser
ENST00000394090.2:c.130C>T ENSP00000377650.2:p.Pro44Ser
ENST00000479617.2:n.137C>T
XM_005262397.3:c.130C>T XP_005262454.1:p.Pro44Ser
XM_005262397.4:c.130C>T XP_005262454.1:p.Pro44Ser