Canonical Allele Identifier: CA2171578558
Community Standard Title: NM_001013703.4(EIF2AK4):c.3406C= (p.Arg1136=)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40007064C= , CM000677.2:g.40007064C= GRCh38
NC_000015.9:g.40299265C= , CM000677.1:g.40299265C= GRCh37
NC_000015.8:g.38086557C= NCBI36
NG_034053.1:g.77941C=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.3406C= MANE Select NP_001013725.2:p.Arg1136=
ENST00000263791.10:c.3406C= MANE Select ENSP00000263791.5:p.Arg1136=
NM_001013703.3:c.3406C= NP_001013725.2:p.Arg1136=
ENST00000263791.9:c.3406C= ENSP00000263791.5:p.Arg1136=
ENST00000558557.1:n.569C=
ENST00000558629.5:n.2323C=
ENST00000559311.5:n.367C=
ENST00000560855.5:c.2738C=
XM_005254392.1:c.3406C= XP_005254449.1:p.Arg1136=
XM_005254392.3:c.3406C= XP_005254449.1:p.Arg1136=
XM_011521599.1:c.3406C= XP_011519901.1:p.Arg1136=
XM_011521599.2:c.3406C= XP_011519901.1:p.Arg1136=
XM_011521600.1:c.3406C= XP_011519902.1:p.Arg1136=
XM_011521600.3:c.3406C= XP_011519902.1:p.Arg1136=
XM_017022219.2:c.3406C= XP_016877708.1:p.Arg1136=