Canonical Allele Identifier: CA2171574471
Community Standard Title: NM_001013703.4(EIF2AK4):c.2857C= (p.Gln953=)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39997054C= , CM000677.2:g.39997054C= GRCh38
NC_000015.9:g.40289255C= , CM000677.1:g.40289255C= GRCh37
NC_000015.8:g.38076547C= NCBI36
NG_034053.1:g.67931C=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.2857C= MANE Select NP_001013725.2:p.Gln953=
ENST00000263791.10:c.2857C= MANE Select ENSP00000263791.5:p.Gln953=
NM_001013703.3:c.2857C= NP_001013725.2:p.Gln953=
ENST00000263791.9:c.2857C= ENSP00000263791.5:p.Gln953=
ENST00000558629.5:n.1774C=
ENST00000560855.5:c.2189C=
XM_005254392.1:c.2857C= XP_005254449.1:p.Gln953=
XM_005254392.3:c.2857C= XP_005254449.1:p.Gln953=
XM_011521599.1:c.2857C= XP_011519901.1:p.Gln953=
XM_011521599.2:c.2857C= XP_011519901.1:p.Gln953=
XM_011521600.1:c.2857C= XP_011519902.1:p.Gln953=
XM_011521600.3:c.2857C= XP_011519902.1:p.Gln953=
XM_017022219.2:c.2857C= XP_016877708.1:p.Gln953=