Canonical Allele Identifier: CA392862121

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029432-T-G
• MyVariant Identifiers: chr15:g.65321770T>G (hg19) ; chr15:g.65029432T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029432T>G , CM000677.2:g.65029432T>G	GRCh38
NC_000015.9:g.65321770T>G , CM000677.1:g.65321770T>G	GRCh37
NC_000015.8:g.63108823T>G	NCBI36
NG_029184.1:g.5208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.182A>C MANE Select	ENSP00000220058.4:p.Glu61Ala
ENST00000220058.8:c.182A>C	ENSP00000220058.4:p.Glu61Ala
ENST00000543678.1:c.182A>C	ENSP00000443754.1:p.Glu61Ala
ENST00000558460.5:c.182A>C	ENSP00000452646.1:p.Glu61Ala
ENST00000558614.1:n.143A>C
ENST00000559633.1:n.101A>C
ENST00000560717.5:c.167A>C	ENSP00000457257.1:p.Glu56Ala
NM_139242.3:c.182A>C	NP_640335.2:p.Glu61Ala
XM_005254158.5:c.182A>C	XP_005254215.2:p.Glu61Ala
XR_001751081.1:n.197A>C
NM_139242.4:c.182A>C MANE Select	NP_640335.2:p.Glu61Ala