Canonical Allele Identifier: CA2183422962
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029608C= , CM000677.2:g.65029608C= GRCh38
NC_000015.9:g.65321946C= , CM000677.1:g.65321946C= GRCh37
NC_000015.8:g.63108999C= NCBI36
NG_029184.1:g.5032G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.6G= MANE Select ENSP00000220058.4:p.Arg2=
ENST00000220058.8:c.6G= ENSP00000220058.4:p.Arg2=
ENST00000543678.1:c.6G= ENSP00000443754.1:p.Arg2=
ENST00000558460.5:c.6G= ENSP00000452646.1:p.Arg2=
NM_139242.3:c.6G= NP_640335.2:p.Arg2=
XM_005254158.5:c.6G= XP_005254215.2:p.Arg2=
XR_001751081.1:n.21G=
NM_139242.4:c.6G= MANE Select NP_640335.2:p.Arg2=