Canonical Allele Identifier: CA391685578
Gene: EIF2AK4 HGNC NCBI

Linked Data

dbSNP Id: rs1462495433

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978082G>A , CM000677.2:g.39978082G>A GRCh38
NC_000015.9:g.40270283G>A , CM000677.1:g.40270283G>A GRCh37
NC_000015.8:g.38057575G>A NCBI36
NG_034053.1:g.48959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.2254G>A MANE Select ENSP00000263791.5:p.Ala752Thr
ENST00000263791.9:c.2254G>A ENSP00000263791.5:p.Ala752Thr
ENST00000560855.5:c.1670G>A
ENST00000624709.1:n.1104G>A
NM_001013703.3:c.2254G>A NP_001013725.2:p.Ala752Thr
XM_005254392.1:c.2254G>A XP_005254449.1:p.Ala752Thr
XM_011521599.1:c.2254G>A XP_011519901.1:p.Ala752Thr
XM_011521600.1:c.2254G>A XP_011519902.1:p.Ala752Thr
XM_005254392.3:c.2254G>A XP_005254449.1:p.Ala752Thr
XM_011521599.2:c.2254G>A XP_011519901.1:p.Ala752Thr
XM_011521600.3:c.2254G>A XP_011519902.1:p.Ala752Thr
XM_017022219.2:c.2254G>A XP_016877708.1:p.Ala752Thr
NM_001013703.4:c.2254G>A MANE Select NP_001013725.2:p.Ala752Thr