Canonical Allele Identifier: CA2731061100

Gene: MTFMT

Linked Data

• dbSNP Id: rs2140493317

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029268G>C , CM000677.2:g.65029268G>C	GRCh38
NC_000015.9:g.65321606G>C , CM000677.1:g.65321606G>C	GRCh37
NC_000015.8:g.63108659G>C	NCBI36
NG_029184.1:g.5372C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+137C>G MANE Select	ENSP00000220058.4:n.209+137C>G
ENST00000220058.8:c.209+137C>G	ENSP00000220058.4:n.209+137C>G
ENST00000543678.1:c.209+137C>G	ENSP00000443754.1:n.209+137C>G
ENST00000558460.5:c.209+137C>G	ENSP00000452646.1:n.209+137C>G
ENST00000558614.1:n.170+137C>G
ENST00000559633.1:n.128+137C>G
ENST00000560717.5:c.194+137C>G	ENSP00000457257.1:n.194+137C>G
NM_139242.3:c.209+137C>G	NP_640335.2:n.209+137C>G
XM_005254158.3:c.-63C>G	XP_005254215.1:n.-63C>G
XM_005254158.5:c.346C>G	XP_005254215.2:p.Leu116Val
XR_001751081.1:n.361C>G
NM_139242.4:c.209+137C>G MANE Select	NP_640335.2:n.209+137C>G