Canonical Allele Identifier: CA2183422949

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029595G= , CM000677.2:g.65029595G=	GRCh38
NC_000015.9:g.65321933G= , CM000677.1:g.65321933G=	GRCh37
NC_000015.8:g.63108986G=	NCBI36
NG_029184.1:g.5045C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.19C= MANE Select	ENSP00000220058.4:p.Arg7=
ENST00000220058.8:c.19C=	ENSP00000220058.4:p.Arg7=
ENST00000543678.1:c.19C=	ENSP00000443754.1:p.Arg7=
ENST00000558460.5:c.19C=	ENSP00000452646.1:p.Arg7=
ENST00000560717.5:c.4C=	ENSP00000457257.1:p.Arg2=
NM_139242.3:c.19C=	NP_640335.2:p.Arg7=
XM_005254158.5:c.19C=	XP_005254215.2:p.Arg7=
XR_001751081.1:n.34C=
NM_139242.4:c.19C= MANE Select	NP_640335.2:p.Arg7=