Canonical Allele Identifier: CA970810339

Gene: MTFMT

Linked Data

• dbSNP Id: rs1595894509
• gnomAD v3: 15-65029203-A-C
• gnomAD v4: 15-65029203-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029203A>C , CM000677.2:g.65029203A>C	GRCh38
NC_000015.9:g.65321541A>C , CM000677.1:g.65321541A>C	GRCh37
NC_000015.8:g.63108594A>C	NCBI36
NG_029184.1:g.5437T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+202T>G MANE Select	ENSP00000220058.4:n.209+202T>G
ENST00000220058.8:c.209+202T>G	ENSP00000220058.4:n.209+202T>G
ENST00000543678.1:c.209+202T>G	ENSP00000443754.1:n.209+202T>G
ENST00000558460.5:c.209+202T>G	ENSP00000452646.1:n.209+202T>G
ENST00000558614.1:n.170+202T>G
ENST00000559633.1:n.128+202T>G
ENST00000560717.5:c.194+202T>G	ENSP00000457257.1:n.194+202T>G
NM_139242.3:c.209+202T>G	NP_640335.2:n.209+202T>G
XM_005254158.3:c.-47+49T>G	XP_005254215.1:n.-47+49T>G
XM_005254158.5:c.362+49T>G	XP_005254215.2:n.362+49T>G
XR_001751081.1:n.377+49T>G
NM_139242.4:c.209+202T>G MANE Select	NP_640335.2:n.209+202T>G