Canonical Allele Identifier: CA391677313
Gene: EIF2AK4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40021004G>T , CM000677.2:g.40021004G>T GRCh38
NC_000015.9:g.40313205G>T , CM000677.1:g.40313205G>T GRCh37
NC_000015.8:g.38100497G>T NCBI36
NG_034053.1:g.91881G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.4279G>T MANE Select ENSP00000263791.5:p.Glu1427Ter
ENST00000263791.9:c.4279G>T ENSP00000263791.5:p.Glu1427Ter
ENST00000558557.1:n.1271G>T
ENST00000558629.5:n.3196G>T
ENST00000558743.1:n.479G>T
ENST00000560855.5:c.3611G>T
NM_001013703.3:c.4279G>T NP_001013725.2:p.Glu1427Ter
XM_005254392.1:c.4279G>T XP_005254449.1:p.Glu1427Ter
XM_011521599.1:c.4279G>T XP_011519901.1:p.Glu1427Ter
XM_011521600.1:c.4108G>T XP_011519902.1:p.Glu1370Ter
XM_005254392.3:c.4279G>T XP_005254449.1:p.Glu1427Ter
XM_011521599.2:c.4279G>T XP_011519901.1:p.Glu1427Ter
XM_011521600.3:c.4108G>T XP_011519902.1:p.Glu1370Ter
XM_017022219.2:c.4108G>T XP_016877708.1:p.Glu1370Ter
NM_001013703.4:c.4279G>T MANE Select NP_001013725.2:p.Glu1427Ter