Canonical Allele Identifier: CA2183422764
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029289A= , CM000677.2:g.65029289A= GRCh38
NC_000015.9:g.65321627A= , CM000677.1:g.65321627A= GRCh37
NC_000015.8:g.63108680A= NCBI36
NG_029184.1:g.5351T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.209+116T= MANE Select ENSP00000220058.4:n.209+116T=
ENST00000220058.8:c.209+116T= ENSP00000220058.4:n.209+116T=
ENST00000543678.1:c.209+116T= ENSP00000443754.1:n.209+116T=
ENST00000558460.5:c.209+116T= ENSP00000452646.1:n.209+116T=
ENST00000558614.1:n.170+116T=
ENST00000559633.1:n.128+116T=
ENST00000560717.5:c.194+116T= ENSP00000457257.1:n.194+116T=
NM_139242.3:c.209+116T= NP_640335.2:n.209+116T=
XM_005254158.3:c.-84T= XP_005254215.1:n.-84T=
XM_005254158.5:c.325T= XP_005254215.2:p.Cys109=
XR_001751081.1:n.340T=
NM_139242.4:c.209+116T= MANE Select NP_640335.2:n.209+116T=