Canonical Allele Identifier: CA2183419089
Community Standard Title: NM_139242.4(MTFMT):c.626C= (p.Ser209=)
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65021533G= , CM000677.2:g.65021533G= GRCh38
NC_000015.9:g.65313871G= , CM000677.1:g.65313871G= GRCh37
NC_000015.8:g.63100924G= NCBI36
NG_029184.1:g.13107C=

Transcript Alleles

HGVS Amino-acid Change
NM_139242.4:c.626C= MANE Select NP_640335.2:p.Ser209=
ENST00000220058.9:c.626C= MANE Select ENSP00000220058.4:p.Ser209=
NM_139242.3:c.626C= NP_640335.2:p.Ser209=
ENST00000220058.8:c.626C= ENSP00000220058.4:p.Ser209=
ENST00000543678.1:c.420-1261C= ENSP00000443754.1:n.420-1261C=
ENST00000558460.5:c.626C= ENSP00000452646.1:p.Ser209=
ENST00000558614.1:n.504-1261C=
ENST00000560717.5:c.501C= ENSP00000457257.1:n.501C=
ENST00000561025.1:n.185C=
XM_005254158.3:c.371C= XP_005254215.1:p.Ser124=
XM_005254158.5:c.779C= XP_005254215.2:p.Ser260=
XR_001751081.1:n.711-1261C=