Canonical Allele Identifier: CA391691010
Community Standard Title: NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39943426G>T , CM000677.2:g.39943426G>T GRCh38
NC_000015.9:g.40235627G>T , CM000677.1:g.40235627G>T GRCh37
NC_000015.8:g.38022919G>T NCBI36
NG_034053.1:g.14303G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.301G>T MANE Select NP_001013725.2:p.Glu101Ter
ENST00000263791.10:c.301G>T MANE Select ENSP00000263791.5:p.Glu101Ter
NM_001013703.3:c.301G>T NP_001013725.2:p.Glu101Ter
ENST00000263791.9:c.301G>T ENSP00000263791.5:p.Glu101Ter
ENST00000559624.5:c.301G>T ENSP00000453148.1:p.Glu101Ter
ENST00000560648.1:c.301G>T ENSP00000453968.1:p.Glu101Ter
XM_005254392.1:c.301G>T XP_005254449.1:p.Glu101Ter
XM_005254392.3:c.301G>T XP_005254449.1:p.Glu101Ter
XM_011521599.1:c.301G>T XP_011519901.1:p.Glu101Ter
XM_011521599.2:c.301G>T XP_011519901.1:p.Glu101Ter
XM_011521600.1:c.301G>T XP_011519902.1:p.Glu101Ter
XM_011521600.3:c.301G>T XP_011519902.1:p.Glu101Ter
XM_017022219.2:c.301G>T XP_016877708.1:p.Glu101Ter