Canonical Allele Identifier: CA2171589577
Community Standard Title: NM_001013703.4(EIF2AK4):c.4728+43T=
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40032280T= , CM000677.2:g.40032280T= GRCh38
NC_000015.9:g.40324481T= , CM000677.1:g.40324481T= GRCh37
NC_000015.8:g.38111773T= NCBI36
NG_034053.1:g.103157T=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.4728+43T= MANE Select NP_001013725.2:n.4728+43T=
ENST00000263791.10:c.4728+43T= MANE Select ENSP00000263791.5:n.4728+43T=
NM_001013703.3:c.4728+43T= NP_001013725.2:n.4728+43T=
ENST00000263791.9:c.4728+43T= ENSP00000263791.5:n.4728+43T=
ENST00000558557.1:n.1720+43T=
ENST00000558629.5:n.3645+43T=
ENST00000558823.1:c.64+1824T=
ENST00000560855.5:c.4060+43T=
XM_005254392.1:c.4660-477T= XP_005254449.1:n.4660-477T=
XM_005254392.3:c.4660-477T= XP_005254449.1:n.4660-477T=
XM_011521599.1:c.4659+1824T= XP_011519901.1:n.4659+1824T=
XM_011521599.2:c.4659+1824T= XP_011519901.1:n.4659+1824T=
XM_011521600.1:c.4557+43T= XP_011519902.1:n.4557+43T=
XM_011521600.3:c.4557+43T= XP_011519902.1:n.4557+43T=
XM_017022219.2:c.4488+1824T= XP_016877708.1:n.4488+1824T=