Canonical Allele Identifier: CA392862054
Gene: MTFMT HGNC NCBI

Linked Data

dbSNP Id: rs1192260922

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029426A>G , CM000677.2:g.65029426A>G GRCh38
NC_000015.9:g.65321764A>G , CM000677.1:g.65321764A>G GRCh37
NC_000015.8:g.63108817A>G NCBI36
NG_029184.1:g.5214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.188T>C MANE Select ENSP00000220058.4:p.Leu63Pro
ENST00000220058.8:c.188T>C ENSP00000220058.4:p.Leu63Pro
ENST00000543678.1:c.188T>C ENSP00000443754.1:p.Leu63Pro
ENST00000558460.5:c.188T>C ENSP00000452646.1:p.Leu63Pro
ENST00000558614.1:n.149T>C
ENST00000559633.1:n.107T>C
ENST00000560717.5:c.173T>C ENSP00000457257.1:p.Leu58Pro
NM_139242.3:c.188T>C NP_640335.2:p.Leu63Pro
XM_005254158.5:c.188T>C XP_005254215.2:p.Leu63Pro
XR_001751081.1:n.203T>C
NM_139242.4:c.188T>C MANE Select NP_640335.2:p.Leu63Pro