Canonical Allele Identifier: CA392862431

Gene: MTFMT

Linked Data

• dbSNP Id: rs2086460319
• gnomAD v4: 15-65029463-G-A
• MyVariant Identifiers: chr15:g.65321801G>A (hg19) ; chr15:g.65029463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029463G>A , CM000677.2:g.65029463G>A	GRCh38
NC_000015.9:g.65321801G>A , CM000677.1:g.65321801G>A	GRCh37
NC_000015.8:g.63108854G>A	NCBI36
NG_029184.1:g.5177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.151C>T MANE Select	ENSP00000220058.4:p.Leu51Phe
ENST00000220058.8:c.151C>T	ENSP00000220058.4:p.Leu51Phe
ENST00000543678.1:c.151C>T	ENSP00000443754.1:p.Leu51Phe
ENST00000558460.5:c.151C>T	ENSP00000452646.1:p.Leu51Phe
ENST00000558614.1:n.112C>T
ENST00000559633.1:n.70C>T
ENST00000560717.5:c.136C>T	ENSP00000457257.1:p.Leu46Phe
NM_139242.3:c.151C>T	NP_640335.2:p.Leu51Phe
XM_005254158.5:c.151C>T	XP_005254215.2:p.Leu51Phe
XR_001751081.1:n.166C>T
NM_139242.4:c.151C>T MANE Select	NP_640335.2:p.Leu51Phe