Canonical Allele Identifier: CA392862256

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029444-T-C
• MyVariant Identifiers: chr15:g.65321782T>C (hg19) ; chr15:g.65029444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029444T>C , CM000677.2:g.65029444T>C	GRCh38
NC_000015.9:g.65321782T>C , CM000677.1:g.65321782T>C	GRCh37
NC_000015.8:g.63108835T>C	NCBI36
NG_029184.1:g.5196A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.170A>G MANE Select	ENSP00000220058.4:p.Gln57Arg
ENST00000220058.8:c.170A>G	ENSP00000220058.4:p.Gln57Arg
ENST00000543678.1:c.170A>G	ENSP00000443754.1:p.Gln57Arg
ENST00000558460.5:c.170A>G	ENSP00000452646.1:p.Gln57Arg
ENST00000558614.1:n.131A>G
ENST00000559633.1:n.89A>G
ENST00000560717.5:c.155A>G	ENSP00000457257.1:p.Gln52Arg
NM_139242.3:c.170A>G	NP_640335.2:p.Gln57Arg
XM_005254158.5:c.170A>G	XP_005254215.2:p.Gln57Arg
XR_001751081.1:n.185A>G
NM_139242.4:c.170A>G MANE Select	NP_640335.2:p.Gln57Arg