Canonical Allele Identifier: CA511204310
Community Standard Title: NM_001958.5(EEF1A2):c.1119G>A (p.Ala373=)
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63489063C>T , CM000682.2:g.63489063C>T GRCh38
NC_000020.10:g.62120416C>T , CM000682.1:g.62120416C>T GRCh37
NC_000020.9:g.61590860C>T NCBI36
NG_034083.1:g.15253G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1119G>A MANE Select NP_001949.1:p.Ala373=
ENST00000217182.6:c.1119G>A MANE Select ENSP00000217182.3:p.Ala373=
NM_001958.3:c.1119G>A NP_001949.1:p.Ala373=
NM_001958.4:c.1119G>A NP_001949.1:p.Ala373=
ENST00000217182.4:c.1119G>A ENSP00000217182.3:p.Ala373=
ENST00000298049.11:c.1119G>A ENSP00000298049.7:p.Ala373=
ENST00000298049.12:c.1119G>A ENSP00000298049.8:p.Ala373=
ENST00000675519.1:c.*991G>A ENSP00000501859.1:n.*991G>A
ENST00000706948.1:c.1119G>A ENSP00000516668.1:p.Ala373=
ENST00000706949.1:c.1119G>A ENSP00000516669.1:p.Ala373=