Canonical Allele Identifier: CA392863486
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029567C>T , CM000677.2:g.65029567C>T GRCh38
NC_000015.9:g.65321905C>T , CM000677.1:g.65321905C>T GRCh37
NC_000015.8:g.63108958C>T NCBI36
NG_029184.1:g.5073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.47G>A MANE Select ENSP00000220058.4:p.Gly16Asp
ENST00000220058.8:c.47G>A ENSP00000220058.4:p.Gly16Asp
ENST00000543678.1:c.47G>A ENSP00000443754.1:p.Gly16Asp
ENST00000558460.5:c.47G>A ENSP00000452646.1:p.Gly16Asp
ENST00000558614.1:n.8G>A
ENST00000560717.5:c.32G>A ENSP00000457257.1:p.Gly11Asp
NM_139242.3:c.47G>A NP_640335.2:p.Gly16Asp
XM_005254158.5:c.47G>A XP_005254215.2:p.Gly16Asp
XR_001751081.1:n.62G>A
NM_139242.4:c.47G>A MANE Select NP_640335.2:p.Gly16Asp