Canonical Allele Identifier: CA2575758836

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029228G>C , CM000677.2:g.65029228G>C	GRCh38
NC_000015.9:g.65321566G>C , CM000677.1:g.65321566G>C	GRCh37
NC_000015.8:g.63108619G>C	NCBI36
NG_029184.1:g.5412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+177C>G MANE Select	ENSP00000220058.4:n.209+177C>G
ENST00000220058.8:c.209+177C>G	ENSP00000220058.4:n.209+177C>G
ENST00000543678.1:c.209+177C>G	ENSP00000443754.1:n.209+177C>G
ENST00000558460.5:c.209+177C>G	ENSP00000452646.1:n.209+177C>G
ENST00000558614.1:n.170+177C>G
ENST00000559633.1:n.128+177C>G
ENST00000560717.5:c.194+177C>G	ENSP00000457257.1:n.194+177C>G
NM_139242.3:c.209+177C>G	NP_640335.2:n.209+177C>G
XM_005254158.3:c.-47+24C>G	XP_005254215.1:n.-47+24C>G
XM_005254158.5:c.362+24C>G	XP_005254215.2:n.362+24C>G
XR_001751081.1:n.377+24C>G
NM_139242.4:c.209+177C>G MANE Select	NP_640335.2:n.209+177C>G