Canonical Allele Identifier: CA392863333

Gene: MTFMT

Linked Data

• MyVariant Identifiers: chr15:g.65321891T>A (hg19) ; chr15:g.65029553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029553T>A , CM000677.2:g.65029553T>A	GRCh38
NC_000015.9:g.65321891T>A , CM000677.1:g.65321891T>A	GRCh37
NC_000015.8:g.63108944T>A	NCBI36
NG_029184.1:g.5087A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220058.9:c.61A>T MANE Select	ENSP00000220058.4:p.Arg21Trp
ENST00000220058.8:c.61A>T	ENSP00000220058.4:p.Arg21Trp
ENST00000543678.1:c.61A>T	ENSP00000443754.1:p.Arg21Trp
ENST00000558460.5:c.61A>T	ENSP00000452646.1:p.Arg21Trp
ENST00000558614.1:n.22A>T
ENST00000560717.5:c.46A>T	ENSP00000457257.1:p.Arg16Trp
NM_139242.3:c.61A>T	NP_640335.2:p.Arg21Trp
XM_005254158.5:c.61A>T	XP_005254215.2:p.Arg21Trp
XR_001751081.1:n.76A>T
NM_139242.4:c.61A>T MANE Select	NP_640335.2:p.Arg21Trp