Canonical Allele Identifier: CA2183422918
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029552C= , CM000677.2:g.65029552C= GRCh38
NC_000015.9:g.65321890C= , CM000677.1:g.65321890C= GRCh37
NC_000015.8:g.63108943C= NCBI36
NG_029184.1:g.5088G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.62G= MANE Select ENSP00000220058.4:p.Arg21=
ENST00000220058.8:c.62G= ENSP00000220058.4:p.Arg21=
ENST00000543678.1:c.62G= ENSP00000443754.1:p.Arg21=
ENST00000558460.5:c.62G= ENSP00000452646.1:p.Arg21=
ENST00000558614.1:n.23G=
ENST00000560717.5:c.47G= ENSP00000457257.1:p.Arg16=
NM_139242.3:c.62G= NP_640335.2:p.Arg21=
XM_005254158.5:c.62G= XP_005254215.2:p.Arg21=
XR_001751081.1:n.77G=
NM_139242.4:c.62G= MANE Select NP_640335.2:p.Arg21=