Canonical Allele Identifier: CA490827026

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029575-C-A
• MyVariant Identifiers: chr15:g.65321913C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029575C>A , CM000677.2:g.65029575C>A	GRCh38
NC_000015.9:g.65321913C>A , CM000677.1:g.65321913C>A	GRCh37
NC_000015.8:g.63108966C>A	NCBI36
NG_029184.1:g.5065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.39G>T MANE Select	ENSP00000220058.4:p.Leu13=
ENST00000220058.8:c.39G>T	ENSP00000220058.4:p.Leu13=
ENST00000543678.1:c.39G>T	ENSP00000443754.1:p.Leu13=
ENST00000558460.5:c.39G>T	ENSP00000452646.1:p.Leu13=
ENST00000560717.5:c.24G>T	ENSP00000457257.1:p.Leu8=
NM_139242.3:c.39G>T	NP_640335.2:p.Leu13=
XM_005254158.5:c.39G>T	XP_005254215.2:p.Leu13=
XR_001751081.1:n.54G>T
NM_139242.4:c.39G>T MANE Select	NP_640335.2:p.Leu13=