Canonical Allele Identifier: CA2628983405
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029633C>A , CM000677.2:g.65029633C>A GRCh38
NC_000015.9:g.65321971C>A , CM000677.1:g.65321971C>A GRCh37
NC_000015.8:g.63109024C>A NCBI36
NG_029184.1:g.5007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.-20G>T MANE Select ENSP00000220058.4:n.-20G>T
ENST00000543678.1:c.-20G>T ENSP00000443754.1:n.-20G>T
NM_139242.3:c.-20G>T NP_640335.2:n.-20G>T
NM_139242.4:c.-20G>T MANE Select NP_640335.2:n.-20G>T