Canonical Allele Identifier: CA2183422867
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029452G= , CM000677.2:g.65029452G= GRCh38
NC_000015.9:g.65321790G= , CM000677.1:g.65321790G= GRCh37
NC_000015.8:g.63108843G= NCBI36
NG_029184.1:g.5188C=

Transcript Alleles

HGVS Amino-acid change
ENST00000220058.9:c.162C= MANE Select ENSP00000220058.4:p.Gly54=
ENST00000220058.8:c.162C= ENSP00000220058.4:p.Gly54=
ENST00000543678.1:c.162C= ENSP00000443754.1:p.Gly54=
ENST00000558460.5:c.162C= ENSP00000452646.1:p.Gly54=
ENST00000558614.1:n.123C=
ENST00000559633.1:n.81C=
ENST00000560717.5:c.147C= ENSP00000457257.1:p.Gly49=
NM_139242.3:c.162C= NP_640335.2:p.Gly54=
XM_005254158.5:c.162C= XP_005254215.2:p.Gly54=
XR_001751081.1:n.177C=
NM_139242.4:c.162C= MANE Select NP_640335.2:p.Gly54=