Canonical Allele Identifier: CA392863170
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029535G>C , CM000677.2:g.65029535G>C GRCh38
NC_000015.9:g.65321873G>C , CM000677.1:g.65321873G>C GRCh37
NC_000015.8:g.63108926G>C NCBI36
NG_029184.1:g.5105C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.79C>G MANE Select ENSP00000220058.4:p.Arg27Gly
ENST00000220058.8:c.79C>G ENSP00000220058.4:p.Arg27Gly
ENST00000543678.1:c.79C>G ENSP00000443754.1:p.Arg27Gly
ENST00000558460.5:c.79C>G ENSP00000452646.1:p.Arg27Gly
ENST00000558614.1:n.40C>G
ENST00000560717.5:c.64C>G ENSP00000457257.1:p.Arg22Gly
NM_139242.3:c.79C>G NP_640335.2:p.Arg27Gly
XM_005254158.5:c.79C>G XP_005254215.2:p.Arg27Gly
XR_001751081.1:n.94C>G
NM_139242.4:c.79C>G MANE Select NP_640335.2:p.Arg27Gly