Canonical Allele Identifier: CA392863832
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029601C>G , CM000677.2:g.65029601C>G GRCh38
NC_000015.9:g.65321939C>G , CM000677.1:g.65321939C>G GRCh37
NC_000015.8:g.63108992C>G NCBI36
NG_029184.1:g.5039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.13G>C MANE Select ENSP00000220058.4:p.Val5Leu
ENST00000220058.8:c.13G>C ENSP00000220058.4:p.Val5Leu
ENST00000543678.1:c.13G>C ENSP00000443754.1:p.Val5Leu
ENST00000558460.5:c.13G>C ENSP00000452646.1:p.Val5Leu
NM_139242.3:c.13G>C NP_640335.2:p.Val5Leu
XM_005254158.5:c.13G>C XP_005254215.2:p.Val5Leu
XR_001751081.1:n.28G>C
NM_139242.4:c.13G>C MANE Select NP_640335.2:p.Val5Leu