Canonical Allele Identifier: CA339461986
Community Standard Title: NM_005955.3(MTF1):c.189C>G (p.Asp63Glu)
Gene: MTF1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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