Canonical Allele Identifier: CA2682243
Community Standard Title: NM_024996.7(GFM1):c.193C>A (p.Arg65=)
Gene: GFM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158645740C>A , CM000665.2:g.158645740C>A GRCh38
NC_000003.11:g.158363529C>A , CM000665.1:g.158363529C>A GRCh37
NC_000003.10:g.159846223C>A NCBI36
NG_008441.1:g.6213C>A

Transcript Alleles

HGVS Amino-acid Change
NM_024996.7:c.193C>A MANE Select NP_079272.4:p.Arg65=
ENST00000486715.6:c.193C>A MANE Select ENSP00000419038.1:p.Arg65=
NM_001308164.1:c.193C>A NP_001295093.1:p.Arg65=
NM_001308164.2:c.193C>A NP_001295093.1:p.Arg65=
NM_001308166.1:c.193C>A NP_001295095.1:p.Arg65=
NM_001308166.2:c.193C>A NP_001295095.1:p.Arg65=
NM_001374355.1:c.193C>A NP_001361284.1:p.Arg65=
NM_001374356.1:c.193C>A NP_001361285.1:p.Arg65=
NM_001374357.1:c.-33C>A NP_001361286.1:n.-33C>A
NM_001374358.1:c.193C>A NP_001361287.1:p.Arg65=
NM_001374359.1:c.-37C>A NP_001361288.1:n.-37C>A
NM_001374360.1:c.-37C>A NP_001361289.1:n.-37C>A
NM_001374361.1:c.-37C>A NP_001361290.1:n.-37C>A
NM_024996.5:c.193C>A NP_079272.4:p.Arg65=
NR_164499.1:n.301C>A
NR_164500.1:n.301C>A
NR_164501.1:n.301C>A
NR_164502.1:n.301C>A
ENST00000264263.9:c.193C>A ENSP00000264263.5:p.Arg65=
ENST00000464732.1:c.-33C>A ENSP00000417532.1:n.-33C>A
ENST00000478254.5:c.193C>A ENSP00000417225.1:p.Arg65=
ENST00000478576.5:c.193C>A ENSP00000418755.1:p.Arg65=
ENST00000486715.5:c.193C>A ENSP00000419038.1:p.Arg65=
XM_006713795.1:c.193C>A XP_006713858.1:p.Arg65=
XM_006713795.2:c.193C>A XP_006713858.1:p.Arg65=