Canonical Allele Identifier: CA392861939

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029411-G-A
• MyVariant Identifiers: chr15:g.65321749G>A (hg19) ; chr15:g.65029411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029411G>A , CM000677.2:g.65029411G>A	GRCh38
NC_000015.9:g.65321749G>A , CM000677.1:g.65321749G>A	GRCh37
NC_000015.8:g.63108802G>A	NCBI36
NG_029184.1:g.5229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.203C>T MANE Select	ENSP00000220058.4:p.Ala68Val
ENST00000220058.8:c.203C>T	ENSP00000220058.4:p.Ala68Val
ENST00000543678.1:c.203C>T	ENSP00000443754.1:p.Ala68Val
ENST00000558460.5:c.203C>T	ENSP00000452646.1:p.Ala68Val
ENST00000558614.1:n.164C>T
ENST00000559633.1:n.122C>T
ENST00000560717.5:c.188C>T	ENSP00000457257.1:p.Ala63Val
NM_139242.3:c.203C>T	NP_640335.2:p.Ala68Val
XM_005254158.5:c.203C>T	XP_005254215.2:p.Ala68Val
XR_001751081.1:n.218C>T
NM_139242.4:c.203C>T MANE Select	NP_640335.2:p.Ala68Val