Canonical Allele Identifier: CA1268211585
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583423C= , CM000664.2:g.88583423C= GRCh38
NC_000002.11:g.88882941C= , CM000664.1:g.88882941C= GRCh37
NC_000002.10:g.88664056C= NCBI36
NG_016424.1:g.49154G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1208+7G=
ENST00000682892.1:c.1310+7G= ENSP00000507214.1:n.1310+7G=
ENST00000682952.1:n.1402+7G=
ENST00000684455.1:c.976+7G=
ENST00000684642.1:c.1160+7G= ENSP00000507355.1:n.1160+7G=
ENST00000303236.9:c.1763+7G= MANE Select ENSP00000307235.3:n.1763+7G=
ENST00000652099.1:c.1957+7G=
ENST00000652736.1:n.1639+7G=
ENST00000303236.7:c.1763+7G= ENSP00000307235.3:n.1763+7G=
ENST00000415570.1:c.1400+7G= ENSP00000412076.1:n.1400+7G=
ENST00000419748.5:c.1310+7G= ENSP00000408325.1:n.1310+7G=
NM_001313915.1:c.1310+7G= NP_001300844.1:n.1310+7G=
NM_004836.5:c.1763+7G= NP_004827.4:n.1763+7G=
NM_004836.6:c.1763+7G= NP_004827.4:n.1763+7G=
XM_005264649.3:c.1079+7G= XP_005264706.1:n.1079+7G=
XR_939749.1:n.1972+7G=
XM_017005376.2:c.1079+7G= XP_016860865.1:n.1079+7G=
NM_004836.7:c.1763+7G= MANE Select NP_004827.4:n.1763+7G=
NM_001313915.2:c.1310+7G= NP_001300844.1:n.1310+7G=