Canonical Allele Identifier: CA2183422762

Gene: MTFMT

Linked Data

• dbSNP Id: rs2086457539
• gnomAD v4: 15-65029284-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029284C>A , CM000677.2:g.65029284C>A	GRCh38
NC_000015.9:g.65321622C>A , CM000677.1:g.65321622C>A	GRCh37
NC_000015.8:g.63108675C>A	NCBI36
NG_029184.1:g.5356G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+121G>T MANE Select	ENSP00000220058.4:n.209+121G>T
ENST00000220058.8:c.209+121G>T	ENSP00000220058.4:n.209+121G>T
ENST00000543678.1:c.209+121G>T	ENSP00000443754.1:n.209+121G>T
ENST00000558460.5:c.209+121G>T	ENSP00000452646.1:n.209+121G>T
ENST00000558614.1:n.170+121G>T
ENST00000559633.1:n.128+121G>T
ENST00000560717.5:c.194+121G>T	ENSP00000457257.1:n.194+121G>T
NM_139242.3:c.209+121G>T	NP_640335.2:n.209+121G>T
XM_005254158.3:c.-79G>T	XP_005254215.1:n.-79G>T
XM_005254158.5:c.330G>T	XP_005254215.2:p.Gly110=
XR_001751081.1:n.345G>T
NM_139242.4:c.209+121G>T MANE Select	NP_640335.2:n.209+121G>T