Canonical Allele Identifier: CA2171578975
Community Standard Title: NM_001013703.4(EIF2AK4):c.3448C= (p.Arg1150=)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40008067C= , CM000677.2:g.40008067C= GRCh38
NC_000015.9:g.40300268C= , CM000677.1:g.40300268C= GRCh37
NC_000015.8:g.38087560C= NCBI36
NG_034053.1:g.78944C=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.3448C= MANE Select NP_001013725.2:p.Arg1150=
ENST00000263791.10:c.3448C= MANE Select ENSP00000263791.5:p.Arg1150=
NM_001013703.3:c.3448C= NP_001013725.2:p.Arg1150=
ENST00000263791.9:c.3448C= ENSP00000263791.5:p.Arg1150=
ENST00000558557.1:n.611C=
ENST00000558629.5:n.2365C=
ENST00000559311.5:n.409C=
ENST00000560855.5:c.2780C=
XM_005254392.1:c.3448C= XP_005254449.1:p.Arg1150=
XM_005254392.3:c.3448C= XP_005254449.1:p.Arg1150=
XM_011521599.1:c.3448C= XP_011519901.1:p.Arg1150=
XM_011521599.2:c.3448C= XP_011519901.1:p.Arg1150=
XM_011521600.1:c.3448C= XP_011519902.1:p.Arg1150=
XM_011521600.3:c.3448C= XP_011519902.1:p.Arg1150=
XM_017022219.2:c.3448C= XP_016877708.1:p.Arg1150=