Canonical Allele Identifier: CA2628983245

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029288-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029288C>A , CM000677.2:g.65029288C>A	GRCh38
NC_000015.9:g.65321626C>A , CM000677.1:g.65321626C>A	GRCh37
NC_000015.8:g.63108679C>A	NCBI36
NG_029184.1:g.5352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+117G>T MANE Select	ENSP00000220058.4:n.209+117G>T
ENST00000220058.8:c.209+117G>T	ENSP00000220058.4:n.209+117G>T
ENST00000543678.1:c.209+117G>T	ENSP00000443754.1:n.209+117G>T
ENST00000558460.5:c.209+117G>T	ENSP00000452646.1:n.209+117G>T
ENST00000558614.1:n.170+117G>T
ENST00000559633.1:n.128+117G>T
ENST00000560717.5:c.194+117G>T	ENSP00000457257.1:n.194+117G>T
NM_139242.3:c.209+117G>T	NP_640335.2:n.209+117G>T
XM_005254158.3:c.-83G>T	XP_005254215.1:n.-83G>T
XM_005254158.5:c.326G>T	XP_005254215.2:p.Cys109Phe
XR_001751081.1:n.341G>T
NM_139242.4:c.209+117G>T MANE Select	NP_640335.2:n.209+117G>T