Canonical Allele Identifier: CA1268211578
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583410G= , CM000664.2:g.88583410G= GRCh38
NC_000002.11:g.88882928G= , CM000664.1:g.88882928G= GRCh37
NC_000002.10:g.88664043G= NCBI36
NG_016424.1:g.49167C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1208+20C=
ENST00000682892.1:c.1310+20C= ENSP00000507214.1:n.1310+20C=
ENST00000682952.1:n.1402+20C=
ENST00000684455.1:c.976+20C=
ENST00000684642.1:c.1160+20C= ENSP00000507355.1:n.1160+20C=
ENST00000303236.9:c.1763+20C= MANE Select ENSP00000307235.3:n.1763+20C=
ENST00000652099.1:c.1957+20C=
ENST00000652736.1:n.1639+20C=
ENST00000303236.7:c.1763+20C= ENSP00000307235.3:n.1763+20C=
ENST00000415570.1:c.1400+20C= ENSP00000412076.1:n.1400+20C=
ENST00000419748.5:c.1310+20C= ENSP00000408325.1:n.1310+20C=
NM_001313915.1:c.1310+20C= NP_001300844.1:n.1310+20C=
NM_004836.5:c.1763+20C= NP_004827.4:n.1763+20C=
NM_004836.6:c.1763+20C= NP_004827.4:n.1763+20C=
XM_005264649.3:c.1079+20C= XP_005264706.1:n.1079+20C=
XR_939749.1:n.1972+20C=
XM_017005376.2:c.1079+20C= XP_016860865.1:n.1079+20C=
NM_004836.7:c.1763+20C= MANE Select NP_004827.4:n.1763+20C=
NM_001313915.2:c.1310+20C= NP_001300844.1:n.1310+20C=