Canonical Allele Identifier: CA392847050

Gene: MTFMT

Linked Data

• MyVariant Identifiers: chr15:g.65298475C>T (hg19) ; chr15:g.65006137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65006137C>T , CM000677.2:g.65006137C>T	GRCh38
NC_000015.9:g.65298475C>T , CM000677.1:g.65298475C>T	GRCh37
NC_000015.8:g.63085528C>T	NCBI36
NG_029184.1:g.28503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.868G>A MANE Select	ENSP00000220058.4:p.Glu290Lys
ENST00000220058.8:c.868G>A	ENSP00000220058.4:p.Glu290Lys
ENST00000558460.5:c.868G>A	ENSP00000452646.1:p.Glu290Lys
ENST00000560717.5:c.743G>A	ENSP00000457257.1:n.743G>A
NM_139242.3:c.868G>A	NP_640335.2:p.Glu290Lys
XM_005254158.3:c.613G>A	XP_005254215.1:p.Glu205Lys
XM_005254158.5:c.1021G>A	XP_005254215.2:p.Glu341Lys
NM_139242.4:c.868G>A MANE Select	NP_640335.2:p.Glu290Lys