Canonical Allele Identifier: CA291053
Gene: GDF9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132862408C>T , CM000667.2:g.132862408C>T GRCh38
NC_000005.9:g.132198100C>T , CM000667.1:g.132198100C>T GRCh37
NC_000005.8:g.132225999C>T NCBI36
NG_012221.1:g.782C>T
NG_047051.1:g.9477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296875.4:c.282G>A ENSP00000296875.3:p.Glu94=
ENST00000464378.2:c.546G>A ENSP00000509893.1:p.Glu182=
ENST00000621295.5:c.282G>A ENSP00000484339.1:p.Glu94=
ENST00000624492.4:c.282G>A ENSP00000485037.1:p.Glu94=
ENST00000624495.4:c.282G>A ENSP00000485231.1:p.Glu94=
ENST00000687138.1:c.546G>A MANE Select ENSP00000510441.1:p.Glu182=
ENST00000687214.1:c.261G>A ENSP00000509237.1:p.Glu87=
ENST00000296875.3:c.282G>A ENSP00000296875.3:p.Glu94=
ENST00000378673.2:c.546G>A ENSP00000367942.2:p.Glu182=
ENST00000464378.1:n.542G>A
ENST00000621295.4:c.282G>A ENSP00000484339.1:p.Glu94=
ENST00000624492.3:c.282G>A ENSP00000485037.1:p.Glu94=
ENST00000624495.3:c.282G>A ENSP00000485231.1:p.Glu94=
NM_001288824.2:c.282G>A NP_001275753.1:p.Glu94=
NM_001288825.2:c.282G>A NP_001275754.1:p.Glu94=
NM_001288826.2:c.282G>A NP_001275755.1:p.Glu94=
NM_001288827.2:c.282G>A NP_001275756.1:p.Glu94=
NM_001288828.2:c.282G>A NP_001275757.1:p.Glu94=
NM_005260.4:c.546G>A NP_005251.1:p.Glu182=
XM_005271957.3:c.282G>A XP_005272014.1:p.Glu94=
XM_006714585.2:c.282G>A XP_006714648.1:p.Glu94=
XM_011543308.1:c.546G>A XP_011541610.1:p.Glu182=
XM_011543309.1:c.282G>A XP_011541611.1:p.Glu94=
XM_011543310.1:c.282G>A XP_011541612.1:p.Glu94=
XM_011543311.1:c.12G>A XP_011541613.1:p.Glu4=
NM_005260.5:c.546G>A NP_005251.1:p.Glu182=
XM_005271957.5:c.282G>A XP_005272014.1:p.Glu94=
XM_006714585.4:c.282G>A XP_006714648.1:p.Glu94=
XM_011543308.3:c.546G>A XP_011541610.1:p.Glu182=
XM_011543311.3:c.12G>A XP_011541613.1:p.Glu4=
NM_001288824.4:c.282G>A NP_001275753.1:p.Glu94=
NM_001288825.4:c.282G>A NP_001275754.1:p.Glu94=
NM_001288826.3:c.282G>A NP_001275755.1:p.Glu94=
NM_001288827.3:c.282G>A NP_001275756.1:p.Glu94=
NM_001288828.3:c.282G>A NP_001275757.1:p.Glu94=
NM_005260.7:c.546G>A MANE Select NP_005251.1:p.Glu182=