Canonical Allele Identifier: CA2183422860
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029442A= , CM000677.2:g.65029442A= GRCh38
NC_000015.9:g.65321780A= , CM000677.1:g.65321780A= GRCh37
NC_000015.8:g.63108833A= NCBI36
NG_029184.1:g.5198T=

Transcript Alleles

HGVS Amino-acid change
ENST00000220058.9:c.172T= MANE Select ENSP00000220058.4:p.Phe58=
ENST00000220058.8:c.172T= ENSP00000220058.4:p.Phe58=
ENST00000543678.1:c.172T= ENSP00000443754.1:p.Phe58=
ENST00000558460.5:c.172T= ENSP00000452646.1:p.Phe58=
ENST00000558614.1:n.133T=
ENST00000559633.1:n.91T=
ENST00000560717.5:c.157T= ENSP00000457257.1:p.Phe53=
NM_139242.3:c.172T= NP_640335.2:p.Phe58=
XM_005254158.5:c.172T= XP_005254215.2:p.Phe58=
XR_001751081.1:n.187T=
NM_139242.4:c.172T= MANE Select NP_640335.2:p.Phe58=