Canonical Allele Identifier: CA392846986
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65006128T>A , CM000677.2:g.65006128T>A GRCh38
NC_000015.9:g.65298466T>A , CM000677.1:g.65298466T>A GRCh37
NC_000015.8:g.63085519T>A NCBI36
NG_029184.1:g.28512A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.877A>T MANE Select ENSP00000220058.4:p.Ser293Cys
ENST00000220058.8:c.877A>T ENSP00000220058.4:p.Ser293Cys
ENST00000558460.5:c.877A>T ENSP00000452646.1:p.Ser293Cys
ENST00000560717.5:c.752A>T ENSP00000457257.1:n.752A>T
NM_139242.3:c.877A>T NP_640335.2:p.Ser293Cys
XM_005254158.3:c.622A>T XP_005254215.1:p.Ser208Cys
XM_005254158.5:c.1030A>T XP_005254215.2:p.Ser344Cys
NM_139242.4:c.877A>T MANE Select NP_640335.2:p.Ser293Cys