Canonical Allele Identifier: CA511204107
Community Standard Title: NM_001958.5(EEF1A2):c.1275C>T (p.Ala425=)
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488415G>A , CM000682.2:g.63488415G>A GRCh38
NC_000020.10:g.62119768G>A , CM000682.1:g.62119768G>A GRCh37
NC_000020.9:g.61590212G>A NCBI36
NG_034083.1:g.15901C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1275C>T MANE Select NP_001949.1:p.Ala425=
ENST00000217182.6:c.1275C>T MANE Select ENSP00000217182.3:p.Ala425=
NM_001958.3:c.1275C>T NP_001949.1:p.Ala425=
NM_001958.4:c.1275C>T NP_001949.1:p.Ala425=
ENST00000217182.4:c.1275C>T ENSP00000217182.3:p.Ala425=
ENST00000298049.11:c.1275C>T ENSP00000298049.7:p.Ala425=
ENST00000298049.12:c.1275C>T ENSP00000298049.8:p.Ala425=
ENST00000675519.1:c.*1147C>T ENSP00000501859.1:n.*1147C>T
ENST00000706948.1:c.1265-32C>T ENSP00000516668.1:n.1265-32C>T
ENST00000706949.1:c.1275C>T ENSP00000516669.1:p.Ala425=