Canonical Allele Identifier: CA775475

Gene: MTF1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37857470G>T , CM000663.2:g.37857470G>T	GRCh38
NC_000001.10:g.38323142G>T , CM000663.1:g.38323142G>T	GRCh37
NC_000001.9:g.38095729G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005955.3:c.189C>A MANE Select	NP_005946.2:p.Asp63Glu
ENST00000373036.5:c.189C>A MANE Select	ENSP00000362127.3:p.Asp63Glu
NM_005955.2:c.189C>A	NP_005946.2:p.Asp63Glu
ENST00000373036.4:c.189C>A	ENSP00000362127.3:p.Asp63Glu
ENST00000468190.1:n.292C>A
XM_011541491.1:c.189C>A	XP_011539793.1:p.Asp63Glu
XM_011541491.2:c.189C>A	XP_011539793.1:p.Asp63Glu
XM_011541492.1:c.189C>A	XP_011539794.1:p.Asp63Glu
XM_011541493.1:c.189C>A	XP_011539795.1:p.Asp63Glu
XM_011541493.3:c.189C>A	XP_011539795.1:p.Asp63Glu
XM_011541494.1:c.-790C>A	XP_011539796.1:n.-790C>A