Canonical Allele Identifier: CA271504691

Gene: MTFMT

Linked Data

• dbSNP Id: rs962525719
• gnomAD v3: 15-65029409-C-T
• gnomAD v4: 15-65029409-C-T
• MyVariant Identifiers: chr15:g.65321747C>T (hg19) ; chr15:g.65029409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029409C>T , CM000677.2:g.65029409C>T	GRCh38
NC_000015.9:g.65321747C>T , CM000677.1:g.65321747C>T	GRCh37
NC_000015.8:g.63108800C>T	NCBI36
NG_029184.1:g.5231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.205G>A MANE Select	ENSP00000220058.4:p.Ala69Thr
ENST00000220058.8:c.205G>A	ENSP00000220058.4:p.Ala69Thr
ENST00000543678.1:c.205G>A	ENSP00000443754.1:p.Ala69Thr
ENST00000558460.5:c.205G>A	ENSP00000452646.1:p.Ala69Thr
ENST00000558614.1:n.166G>A
ENST00000559633.1:n.124G>A
ENST00000560717.5:c.190G>A	ENSP00000457257.1:p.Ala64Thr
NM_139242.3:c.205G>A	NP_640335.2:p.Ala69Thr
XM_005254158.5:c.205G>A	XP_005254215.2:p.Ala69Thr
XR_001751081.1:n.220G>A
NM_139242.4:c.205G>A MANE Select	NP_640335.2:p.Ala69Thr