Canonical Allele Identifier: CA1268208140
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575175C= , CM000664.2:g.88575175C= GRCh38
NC_000002.11:g.88874693C= , CM000664.1:g.88874693C= GRCh37
NC_000002.10:g.88655808C= NCBI36
NG_016424.1:g.57402G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2136G=
ENST00000682276.1:n.1753G=
ENST00000682892.1:c.1855G= ENSP00000507214.1:p.Asp619=
ENST00000682952.1:n.1947G=
ENST00000684455.1:c.1521G=
ENST00000684642.1:c.1705G= ENSP00000507355.1:p.Asp569=
ENST00000684740.1:n.2486G=
ENST00000303236.9:c.2308G= MANE Select ENSP00000307235.3:p.Asp770=
ENST00000652099.1:c.2502G=
ENST00000652736.1:n.2184G=
ENST00000303236.7:c.2308G= ENSP00000307235.3:p.Asp770=
ENST00000415570.1:c.1945G= ENSP00000412076.1:p.Asp649=
ENST00000419748.5:c.1855G= ENSP00000408325.1:p.Asp619=
ENST00000470706.1:n.49-98G=
NM_001313915.1:c.1855G= NP_001300844.1:p.Asp619=
NM_004836.5:c.2308G= NP_004827.4:p.Asp770=
NM_004836.6:c.2308G= NP_004827.4:p.Asp770=
NR_110236.1:n.1312C=
XM_005264649.3:c.1624G= XP_005264706.1:p.Asp542=
XM_017005376.2:c.1624G= XP_016860865.1:p.Asp542=
NM_004836.7:c.2308G= MANE Select NP_004827.4:p.Asp770=
NM_001313915.2:c.1855G= NP_001300844.1:p.Asp619=