Canonical Allele Identifier: CA2183422858
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029436G= , CM000677.2:g.65029436G= GRCh38
NC_000015.9:g.65321774G= , CM000677.1:g.65321774G= GRCh37
NC_000015.8:g.63108827G= NCBI36
NG_029184.1:g.5204C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.178C= MANE Select ENSP00000220058.4:p.Arg60=
ENST00000220058.8:c.178C= ENSP00000220058.4:p.Arg60=
ENST00000543678.1:c.178C= ENSP00000443754.1:p.Arg60=
ENST00000558460.5:c.178C= ENSP00000452646.1:p.Arg60=
ENST00000558614.1:n.139C=
ENST00000559633.1:n.97C=
ENST00000560717.5:c.163C= ENSP00000457257.1:p.Arg55=
NM_139242.3:c.178C= NP_640335.2:p.Arg60=
XM_005254158.5:c.178C= XP_005254215.2:p.Arg60=
XR_001751081.1:n.193C=
NM_139242.4:c.178C= MANE Select NP_640335.2:p.Arg60=