Canonical Allele Identifier: CA392847068

Gene: MTFMT

Linked Data

• MyVariant Identifiers: chr15:g.65298478C>A (hg19) ; chr15:g.65006140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65006140C>A , CM000677.2:g.65006140C>A	GRCh38
NC_000015.9:g.65298478C>A , CM000677.1:g.65298478C>A	GRCh37
NC_000015.8:g.63085531C>A	NCBI36
NG_029184.1:g.28500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.865G>T MANE Select	ENSP00000220058.4:p.Val289Leu
ENST00000220058.8:c.865G>T	ENSP00000220058.4:p.Val289Leu
ENST00000558460.5:c.865G>T	ENSP00000452646.1:p.Val289Leu
ENST00000560717.5:c.740G>T	ENSP00000457257.1:n.740G>T
NM_139242.3:c.865G>T	NP_640335.2:p.Val289Leu
XM_005254158.3:c.610G>T	XP_005254215.1:p.Val204Leu
XM_005254158.5:c.1018G>T	XP_005254215.2:p.Val340Leu
NM_139242.4:c.865G>T MANE Select	NP_640335.2:p.Val289Leu