Canonical Allele Identifier: CA714892040

Gene: MTFMT

Linked Data

• dbSNP Id: rs1290851147
• gnomAD v4: 15-65029400-G-T
• MyVariant Identifiers: chr15:g.65321738G>T (hg19) ; chr15:g.65029400G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029400G>T , CM000677.2:g.65029400G>T	GRCh38
NC_000015.9:g.65321738G>T , CM000677.1:g.65321738G>T	GRCh37
NC_000015.8:g.63108791G>T	NCBI36
NG_029184.1:g.5240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+5C>A MANE Select	ENSP00000220058.4:n.209+5C>A
ENST00000220058.8:c.209+5C>A	ENSP00000220058.4:n.209+5C>A
ENST00000543678.1:c.209+5C>A	ENSP00000443754.1:n.209+5C>A
ENST00000558460.5:c.209+5C>A	ENSP00000452646.1:n.209+5C>A
ENST00000558614.1:n.170+5C>A
ENST00000559633.1:n.128+5C>A
ENST00000560717.5:c.194+5C>A	ENSP00000457257.1:n.194+5C>A
NM_139242.3:c.209+5C>A	NP_640335.2:n.209+5C>A
XM_005254158.5:c.214C>A	XP_005254215.2:p.Pro72Thr
XR_001751081.1:n.229C>A
NM_139242.4:c.209+5C>A MANE Select	NP_640335.2:n.209+5C>A