Canonical Allele Identifier: CA392861970

Gene: MTFMT

Linked Data

• dbSNP Id: rs1244223902
• gnomAD v2: 15-65321751-G-T
• gnomAD v4: 15-65029413-G-T
• MyVariant Identifiers: chr15:g.65321751G>T (hg19) ; chr15:g.65029413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029413G>T , CM000677.2:g.65029413G>T	GRCh38
NC_000015.9:g.65321751G>T , CM000677.1:g.65321751G>T	GRCh37
NC_000015.8:g.63108804G>T	NCBI36
NG_029184.1:g.5227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.201C>A MANE Select	ENSP00000220058.4:p.His67Gln
ENST00000220058.8:c.201C>A	ENSP00000220058.4:p.His67Gln
ENST00000543678.1:c.201C>A	ENSP00000443754.1:p.His67Gln
ENST00000558460.5:c.201C>A	ENSP00000452646.1:p.His67Gln
ENST00000558614.1:n.162C>A
ENST00000559633.1:n.120C>A
ENST00000560717.5:c.186C>A	ENSP00000457257.1:p.His62Gln
NM_139242.3:c.201C>A	NP_640335.2:p.His67Gln
XM_005254158.5:c.201C>A	XP_005254215.2:p.His67Gln
XR_001751081.1:n.216C>A
NM_139242.4:c.201C>A MANE Select	NP_640335.2:p.His67Gln