Canonical Allele Identifier: CA1268208242
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575453G= , CM000664.2:g.88575453G= GRCh38
NC_000002.11:g.88874971G= , CM000664.1:g.88874971G= GRCh37
NC_000002.10:g.88656086G= NCBI36
NG_016424.1:g.57124C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-7C=
ENST00000682276.1:n.1482-7C=
ENST00000682892.1:c.1584-7C= ENSP00000507214.1:n.1584-7C=
ENST00000682952.1:n.1676-7C=
ENST00000684455.1:c.1250-7C=
ENST00000684642.1:c.1434-7C= ENSP00000507355.1:n.1434-7C=
ENST00000684740.1:n.2215-7C=
ENST00000303236.9:c.2037-7C= MANE Select ENSP00000307235.3:n.2037-7C=
ENST00000652099.1:c.2231-7C=
ENST00000652736.1:n.1913-7C=
ENST00000303236.7:c.2037-7C= ENSP00000307235.3:n.2037-7C=
ENST00000415570.1:c.1674-7C= ENSP00000412076.1:n.1674-7C=
ENST00000419748.5:c.1584-7C= ENSP00000408325.1:n.1584-7C=
ENST00000478003.1:n.603-7C=
NM_001313915.1:c.1584-7C= NP_001300844.1:n.1584-7C=
NM_004836.5:c.2037-7C= NP_004827.4:n.2037-7C=
NM_004836.6:c.2037-7C= NP_004827.4:n.2037-7C=
NR_110236.1:n.1590G=
XM_005264649.3:c.1353-7C= XP_005264706.1:n.1353-7C=
XR_939749.1:n.2316-7C=
XM_017005376.2:c.1353-7C= XP_016860865.1:n.1353-7C=
NM_004836.7:c.2037-7C= MANE Select NP_004827.4:n.2037-7C=
NM_001313915.2:c.1584-7C= NP_001300844.1:n.1584-7C=