Canonical Allele Identifier: CA392861890

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029405-C-G
• MyVariant Identifiers: chr15:g.65321743C>G (hg19) ; chr15:g.65029405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029405C>G , CM000677.2:g.65029405C>G	GRCh38
NC_000015.9:g.65321743C>G , CM000677.1:g.65321743C>G	GRCh37
NC_000015.8:g.63108796C>G	NCBI36
NG_029184.1:g.5235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209G>C MANE Select	ENSP00000220058.4:p.Arg70Thr
ENST00000220058.8:c.209G>C	ENSP00000220058.4:p.Arg70Thr
ENST00000543678.1:c.209G>C	ENSP00000443754.1:p.Arg70Thr
ENST00000558460.5:c.209G>C	ENSP00000452646.1:p.Arg70Thr
ENST00000558614.1:n.170G>C
ENST00000559633.1:n.128G>C
ENST00000560717.5:c.194G>C	ENSP00000457257.1:p.Arg65Thr
NM_139242.3:c.209G>C	NP_640335.2:p.Arg70Thr
XM_005254158.5:c.209G>C	XP_005254215.2:p.Arg70Thr
XR_001751081.1:n.224G>C
NM_139242.4:c.209G>C MANE Select	NP_640335.2:p.Arg70Thr