Canonical Allele Identifier: CA271504923
Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1347875
ClinVar RCV Id: RCV002050698
dbSNP Id: rs1035884059

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029607C>T , CM000677.2:g.65029607C>T GRCh38
NC_000015.9:g.65321945C>T , CM000677.1:g.65321945C>T GRCh37
NC_000015.8:g.63108998C>T NCBI36
NG_029184.1:g.5033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.7G>A MANE Select ENSP00000220058.4:p.Val3Met
ENST00000220058.8:c.7G>A ENSP00000220058.4:p.Val3Met
ENST00000543678.1:c.7G>A ENSP00000443754.1:p.Val3Met
ENST00000558460.5:c.7G>A ENSP00000452646.1:p.Val3Met
NM_139242.3:c.7G>A NP_640335.2:p.Val3Met
XM_005254158.5:c.7G>A XP_005254215.2:p.Val3Met
XR_001751081.1:n.22G>A
NM_139242.4:c.7G>A MANE Select NP_640335.2:p.Val3Met