Canonical Allele Identifier: CA2171566131
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39977950C= , CM000677.2:g.39977950C= GRCh38
NC_000015.9:g.40270151C= , CM000677.1:g.40270151C= GRCh37
NC_000015.8:g.38057443C= NCBI36
NG_034053.1:g.48827C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.2250-128C= MANE Select ENSP00000263791.5:n.2250-128C=
ENST00000263791.9:c.2250-128C= ENSP00000263791.5:n.2250-128C=
ENST00000560855.5:c.1666-128C=
ENST00000624709.1:n.972C=
NM_001013703.3:c.2250-128C= NP_001013725.2:n.2250-128C=
XM_005254392.1:c.2250-128C= XP_005254449.1:n.2250-128C=
XM_011521599.1:c.2250-128C= XP_011519901.1:n.2250-128C=
XM_011521600.1:c.2250-128C= XP_011519902.1:n.2250-128C=
XM_005254392.3:c.2250-128C= XP_005254449.1:n.2250-128C=
XM_011521599.2:c.2250-128C= XP_011519901.1:n.2250-128C=
XM_011521600.3:c.2250-128C= XP_011519902.1:n.2250-128C=
XM_017022219.2:c.2250-128C= XP_016877708.1:n.2250-128C=
NM_001013703.4:c.2250-128C= MANE Select NP_001013725.2:n.2250-128C=