Canonical Allele Identifier: CA392862019

Gene: MTFMT

Linked Data

• dbSNP Id: rs1264914031
• gnomAD v2: 15-65321758-G-C
• gnomAD v4: 15-65029420-G-C
• MyVariant Identifiers: chr15:g.65321758G>C (hg19) ; chr15:g.65029420G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029420G>C , CM000677.2:g.65029420G>C	GRCh38
NC_000015.9:g.65321758G>C , CM000677.1:g.65321758G>C	GRCh37
NC_000015.8:g.63108811G>C	NCBI36
NG_029184.1:g.5220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.194C>G MANE Select	ENSP00000220058.4:p.Ala65Gly
ENST00000220058.8:c.194C>G	ENSP00000220058.4:p.Ala65Gly
ENST00000543678.1:c.194C>G	ENSP00000443754.1:p.Ala65Gly
ENST00000558460.5:c.194C>G	ENSP00000452646.1:p.Ala65Gly
ENST00000558614.1:n.155C>G
ENST00000559633.1:n.113C>G
ENST00000560717.5:c.179C>G	ENSP00000457257.1:p.Ala60Gly
NM_139242.3:c.194C>G	NP_640335.2:p.Ala65Gly
XM_005254158.5:c.194C>G	XP_005254215.2:p.Ala65Gly
XR_001751081.1:n.209C>G
NM_139242.4:c.194C>G MANE Select	NP_640335.2:p.Ala65Gly