Canonical Allele Identifier: CA2183422730
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029213T= , CM000677.2:g.65029213T= GRCh38
NC_000015.9:g.65321551T= , CM000677.1:g.65321551T= GRCh37
NC_000015.8:g.63108604T= NCBI36
NG_029184.1:g.5427A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.209+192A= MANE Select ENSP00000220058.4:n.209+192A=
ENST00000220058.8:c.209+192A= ENSP00000220058.4:n.209+192A=
ENST00000543678.1:c.209+192A= ENSP00000443754.1:n.209+192A=
ENST00000558460.5:c.209+192A= ENSP00000452646.1:n.209+192A=
ENST00000558614.1:n.170+192A=
ENST00000559633.1:n.128+192A=
ENST00000560717.5:c.194+192A= ENSP00000457257.1:n.194+192A=
NM_139242.3:c.209+192A= NP_640335.2:n.209+192A=
XM_005254158.3:c.-47+39A= XP_005254215.1:n.-47+39A=
XM_005254158.5:c.362+39A= XP_005254215.2:n.362+39A=
XR_001751081.1:n.377+39A=
NM_139242.4:c.209+192A= MANE Select NP_640335.2:n.209+192A=