Canonical Allele Identifier: CA392862272

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029445-G-T
• MyVariant Identifiers: chr15:g.65321783G>T (hg19) ; chr15:g.65029445G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029445G>T , CM000677.2:g.65029445G>T	GRCh38
NC_000015.9:g.65321783G>T , CM000677.1:g.65321783G>T	GRCh37
NC_000015.8:g.63108836G>T	NCBI36
NG_029184.1:g.5195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.169C>A MANE Select	ENSP00000220058.4:p.Gln57Lys
ENST00000220058.8:c.169C>A	ENSP00000220058.4:p.Gln57Lys
ENST00000543678.1:c.169C>A	ENSP00000443754.1:p.Gln57Lys
ENST00000558460.5:c.169C>A	ENSP00000452646.1:p.Gln57Lys
ENST00000558614.1:n.130C>A
ENST00000559633.1:n.88C>A
ENST00000560717.5:c.154C>A	ENSP00000457257.1:p.Gln52Lys
NM_139242.3:c.169C>A	NP_640335.2:p.Gln57Lys
XM_005254158.5:c.169C>A	XP_005254215.2:p.Gln57Lys
XR_001751081.1:n.184C>A
NM_139242.4:c.169C>A MANE Select	NP_640335.2:p.Gln57Lys