Canonical Allele Identifier: CA1268208095
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575041A= , CM000664.2:g.88575041A= GRCh38
NC_000002.11:g.88874559A= , CM000664.1:g.88874559A= GRCh37
NC_000002.10:g.88655674A= NCBI36
NG_016424.1:g.57536T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2270T=
ENST00000682276.1:n.1887T=
ENST00000682892.1:c.1989T= ENSP00000507214.1:p.Asp663=
ENST00000682952.1:n.2081T=
ENST00000684455.1:c.1655T=
ENST00000684642.1:c.1839T= ENSP00000507355.1:p.Asp613=
ENST00000684740.1:n.2620T=
ENST00000303236.9:c.2442T= MANE Select ENSP00000307235.3:p.Asp814=
ENST00000652099.1:c.2636T=
ENST00000652736.1:n.2318T=
ENST00000303236.7:c.2442T= ENSP00000307235.3:p.Asp814=
ENST00000415570.1:c.2079T= ENSP00000412076.1:p.Asp693=
ENST00000419748.5:c.1989T= ENSP00000408325.1:p.Asp663=
ENST00000470706.1:n.85T=
NM_001313915.1:c.1989T= NP_001300844.1:p.Asp663=
NM_004836.5:c.2442T= NP_004827.4:p.Asp814=
NM_004836.6:c.2442T= NP_004827.4:p.Asp814=
NR_110236.1:n.1178A=
XM_005264649.3:c.1758T= XP_005264706.1:p.Asp586=
XM_017005376.2:c.1758T= XP_016860865.1:p.Asp586=
NM_004836.7:c.2442T= MANE Select NP_004827.4:p.Asp814=
NM_001313915.2:c.1989T= NP_001300844.1:p.Asp663=