Canonical Allele Identifier: CA1268208155
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575219A= , CM000664.2:g.88575219A= GRCh38
NC_000002.11:g.88874737A= , CM000664.1:g.88874737A= GRCh37
NC_000002.10:g.88655852A= NCBI36
NG_016424.1:g.57358T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2092T=
ENST00000682276.1:n.1709T=
ENST00000682892.1:c.1811T= ENSP00000507214.1:p.Val604=
ENST00000682952.1:n.1903T=
ENST00000684455.1:c.1477T=
ENST00000684642.1:c.1661T= ENSP00000507355.1:p.Val554=
ENST00000684740.1:n.2442T=
ENST00000303236.9:c.2264T= MANE Select ENSP00000307235.3:p.Val755=
ENST00000652099.1:c.2458T=
ENST00000652736.1:n.2140T=
ENST00000303236.7:c.2264T= ENSP00000307235.3:p.Val755=
ENST00000415570.1:c.1901T= ENSP00000412076.1:p.Val634=
ENST00000419748.5:c.1811T= ENSP00000408325.1:p.Val604=
ENST00000470706.1:n.49-142T=
NM_001313915.1:c.1811T= NP_001300844.1:p.Val604=
NM_004836.5:c.2264T= NP_004827.4:p.Val755=
NM_004836.6:c.2264T= NP_004827.4:p.Val755=
NR_110236.1:n.1356A=
XM_005264649.3:c.1580T= XP_005264706.1:p.Val527=
XM_017005376.2:c.1580T= XP_016860865.1:p.Val527=
NM_004836.7:c.2264T= MANE Select NP_004827.4:p.Val755=
NM_001313915.2:c.1811T= NP_001300844.1:p.Val604=