Canonical Allele Identifier: CA7175062
Community Standard Title: NM_004713.6(NEMF):c.2011C>T (p.Arg671Ter)
Gene: NEMF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49802537G>A , CM000676.2:g.49802537G>A GRCh38
NC_000014.8:g.50269255G>A , CM000676.1:g.50269255G>A GRCh37
NC_000014.7:g.49339005G>A NCBI36
NG_051075.1:g.55667C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004713.6:c.2011C>T MANE Select NP_004704.3:p.Arg671Ter
ENST00000298310.10:c.2011C>T MANE Select ENSP00000298310.5:p.Arg671Ter
NM_001301732.1:c.1948C>T NP_001288661.1:p.Arg650Ter
NM_001301732.2:c.1948C>T NP_001288661.1:p.Arg650Ter
NM_001301732.3:c.1948C>T NP_001288661.2:p.Arg650Ter
NM_004713.4:c.2011C>T NP_004704.2:p.Arg671Ter
NM_004713.5:c.2011C>T NP_004704.2:p.Arg671Ter
ENST00000298310.9:c.2011C>T ENSP00000298310.5:p.Arg671Ter
ENST00000555411.1:n.443C>T
ENST00000555970.5:c.1885C>T ENSP00000452540.1:p.Arg629Ter
ENST00000556925.5:n.1311C>T
XM_005268200.3:c.1369C>T XP_005268257.1:p.Arg457Ter
XM_005268201.3:c.1324C>T XP_005268258.1:p.Arg442Ter
XM_011537316.1:c.1369C>T XP_011535618.1:p.Arg457Ter
XM_017021760.2:c.1324C>T XP_016877249.1:p.Arg442Ter
XM_017021761.1:c.1324C>T XP_016877250.1:p.Arg442Ter
XR_001750595.2:n.2094C>T
XR_943556.1:n.2303C>T
XR_943557.1:n.2303C>T
XR_943557.3:n.2094C>T