Canonical Allele Identifier: CA271500515

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65023754G>A , CM000677.2:g.65023754G>A	GRCh38
NC_000015.9:g.65316092G>A , CM000677.1:g.65316092G>A	GRCh37
NC_000015.8:g.63103145G>A	NCBI36
NG_029184.1:g.10886C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139242.4:c.460C>T MANE Select	NP_640335.2:p.Arg154Cys
ENST00000220058.9:c.460C>T MANE Select	ENSP00000220058.4:p.Arg154Cys
NM_139242.3:c.460C>T	NP_640335.2:p.Arg154Cys
ENST00000220058.8:c.460C>T	ENSP00000220058.4:p.Arg154Cys
ENST00000543678.1:c.419+3077C>T	ENSP00000443754.1:n.419+3077C>T
ENST00000558460.5:c.460C>T	ENSP00000452646.1:p.Arg154Cys
ENST00000558614.1:n.421C>T
ENST00000560717.5:c.418-2138C>T	ENSP00000457257.1:n.418-2138C>T
ENST00000561025.1:n.102-2138C>T
XM_005254158.3:c.205C>T	XP_005254215.1:p.Arg69Cys
XM_005254158.5:c.613C>T	XP_005254215.2:p.Arg205Cys
XR_001751081.1:n.628C>T