Canonical Allele Identifier: CA392862964
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029508C>G , CM000677.2:g.65029508C>G GRCh38
NC_000015.9:g.65321846C>G , CM000677.1:g.65321846C>G GRCh37
NC_000015.8:g.63108899C>G NCBI36
NG_029184.1:g.5132G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.106G>C MANE Select ENSP00000220058.4:p.Asp36His
ENST00000220058.8:c.106G>C ENSP00000220058.4:p.Asp36His
ENST00000543678.1:c.106G>C ENSP00000443754.1:p.Asp36His
ENST00000558460.5:c.106G>C ENSP00000452646.1:p.Asp36His
ENST00000558614.1:n.67G>C
ENST00000559633.1:n.25G>C
ENST00000560717.5:c.91G>C ENSP00000457257.1:p.Asp31His
NM_139242.3:c.106G>C NP_640335.2:p.Asp36His
XM_005254158.5:c.106G>C XP_005254215.2:p.Asp36His
XR_001751081.1:n.121G>C
NM_139242.4:c.106G>C MANE Select NP_640335.2:p.Asp36His