Canonical Allele Identifier: CA317439921

Gene: EEF1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63493150C>T , CM000682.2:g.63493150C>T	GRCh38
NC_000020.10:g.62124503C>T , CM000682.1:g.62124503C>T	GRCh37
NC_000020.9:g.61594947C>T	NCBI36
NG_034083.1:g.11166G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001958.5:c.759G>A MANE Select	NP_001949.1:p.Val253=
ENST00000217182.6:c.759G>A MANE Select	ENSP00000217182.3:p.Val253=
NM_001958.3:c.759G>A	NP_001949.1:p.Val253=
NM_001958.4:c.759G>A	NP_001949.1:p.Val253=
ENST00000217182.4:c.759G>A	ENSP00000217182.3:p.Val253=
ENST00000298049.11:c.759G>A	ENSP00000298049.7:p.Val253=
ENST00000298049.12:c.759G>A	ENSP00000298049.8:p.Val253=
ENST00000645586.1:n.3328G>A
ENST00000675519.1:c.*631G>A	ENSP00000501859.1:n.*631G>A
ENST00000706948.1:c.759G>A	ENSP00000516668.1:p.Val253=
ENST00000706949.1:c.759G>A	ENSP00000516669.1:p.Val253=