Canonical Allele Identifier: CA2183422775

Gene: MTFMT

Linked Data

• dbSNP Id: rs2086457807
• gnomAD v4: 15-65029307-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029307C>T , CM000677.2:g.65029307C>T	GRCh38
NC_000015.9:g.65321645C>T , CM000677.1:g.65321645C>T	GRCh37
NC_000015.8:g.63108698C>T	NCBI36
NG_029184.1:g.5333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+98G>A MANE Select	ENSP00000220058.4:n.209+98G>A
ENST00000220058.8:c.209+98G>A	ENSP00000220058.4:n.209+98G>A
ENST00000543678.1:c.209+98G>A	ENSP00000443754.1:n.209+98G>A
ENST00000558460.5:c.209+98G>A	ENSP00000452646.1:n.209+98G>A
ENST00000558614.1:n.170+98G>A
ENST00000559633.1:n.128+98G>A
ENST00000560717.5:c.194+98G>A	ENSP00000457257.1:n.194+98G>A
NM_139242.3:c.209+98G>A	NP_640335.2:n.209+98G>A
XM_005254158.3:c.-102G>A	XP_005254215.1:n.-102G>A
XM_005254158.5:c.307G>A	XP_005254215.2:p.Ala103Thr
XR_001751081.1:n.322G>A
NM_139242.4:c.209+98G>A MANE Select	NP_640335.2:n.209+98G>A