Canonical Allele Identifier: CA7613430

Gene: MTFMT

Linked Data

• dbSNP Id: rs531275436
• ExAC: 15:65321792 C / A
• gnomAD v2: 15-65321792-C-A
• gnomAD v3: 15-65029454-C-A
• gnomAD v4: 15-65029454-C-A
• MyVariant Identifiers: chr15:g.65321792C>A (hg19) ; chr15:g.65029454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029454C>A , CM000677.2:g.65029454C>A	GRCh38
NC_000015.9:g.65321792C>A , CM000677.1:g.65321792C>A	GRCh37
NC_000015.8:g.63108845C>A	NCBI36
NG_029184.1:g.5186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.160G>T MANE Select	ENSP00000220058.4:p.Gly54Cys
ENST00000220058.8:c.160G>T	ENSP00000220058.4:p.Gly54Cys
ENST00000543678.1:c.160G>T	ENSP00000443754.1:p.Gly54Cys
ENST00000558460.5:c.160G>T	ENSP00000452646.1:p.Gly54Cys
ENST00000558614.1:n.121G>T
ENST00000559633.1:n.79G>T
ENST00000560717.5:c.145G>T	ENSP00000457257.1:p.Gly49Cys
NM_139242.3:c.160G>T	NP_640335.2:p.Gly54Cys
XM_005254158.5:c.160G>T	XP_005254215.2:p.Gly54Cys
XR_001751081.1:n.175G>T
NM_139242.4:c.160G>T MANE Select	NP_640335.2:p.Gly54Cys