Canonical Allele Identifier: CA2183422861
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029443C= , CM000677.2:g.65029443C= GRCh38
NC_000015.9:g.65321781C= , CM000677.1:g.65321781C= GRCh37
NC_000015.8:g.63108834C= NCBI36
NG_029184.1:g.5197G=

Transcript Alleles

HGVS Amino-acid change
ENST00000220058.9:c.171G= MANE Select ENSP00000220058.4:p.Gln57=
ENST00000220058.8:c.171G= ENSP00000220058.4:p.Gln57=
ENST00000543678.1:c.171G= ENSP00000443754.1:p.Gln57=
ENST00000558460.5:c.171G= ENSP00000452646.1:p.Gln57=
ENST00000558614.1:n.132G=
ENST00000559633.1:n.90G=
ENST00000560717.5:c.156G= ENSP00000457257.1:p.Gln52=
NM_139242.3:c.171G= NP_640335.2:p.Gln57=
XM_005254158.5:c.171G= XP_005254215.2:p.Gln57=
XR_001751081.1:n.186G=
NM_139242.4:c.171G= MANE Select NP_640335.2:p.Gln57=