Canonical Allele Identifier: CA1268208148
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575197C= , CM000664.2:g.88575197C= GRCh38
NC_000002.11:g.88874715C= , CM000664.1:g.88874715C= GRCh37
NC_000002.10:g.88655830C= NCBI36
NG_016424.1:g.57380G=

Transcript Alleles

HGVS Amino-acid change
ENST00000478003.2:n.2114G=
ENST00000682276.1:n.1731G=
ENST00000682892.1:c.1833G= ENSP00000507214.1:p.Gln611=
ENST00000682952.1:n.1925G=
ENST00000684455.1:c.1499G=
ENST00000684642.1:c.1683G= ENSP00000507355.1:p.Gln561=
ENST00000684740.1:n.2464G=
ENST00000303236.9:c.2286G= MANE Select ENSP00000307235.3:p.Gln762=
ENST00000652099.1:c.2480G=
ENST00000652736.1:n.2162G=
ENST00000303236.7:c.2286G= ENSP00000307235.3:p.Gln762=
ENST00000415570.1:c.1923G= ENSP00000412076.1:p.Gln641=
ENST00000419748.5:c.1833G= ENSP00000408325.1:p.Gln611=
ENST00000470706.1:n.49-120G=
NM_001313915.1:c.1833G= NP_001300844.1:p.Gln611=
NM_004836.5:c.2286G= NP_004827.4:p.Gln762=
NM_004836.6:c.2286G= NP_004827.4:p.Gln762=
NR_110236.1:n.1334C=
XM_005264649.3:c.1602G= XP_005264706.1:p.Gln534=
XM_017005376.2:c.1602G= XP_016860865.1:p.Gln534=
NM_004836.7:c.2286G= MANE Select NP_004827.4:p.Gln762=
NM_001313915.2:c.1833G= NP_001300844.1:p.Gln611=