Canonical Allele Identifier: CA1268208219
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575379G= , CM000664.2:g.88575379G= GRCh38
NC_000002.11:g.88874897G= , CM000664.1:g.88874897G= GRCh37
NC_000002.10:g.88656012G= NCBI36
NG_016424.1:g.57198C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1932C=
ENST00000682276.1:n.1549C=
ENST00000682892.1:c.1651C= ENSP00000507214.1:p.Pro551=
ENST00000682952.1:n.1743C=
ENST00000684455.1:c.1317C=
ENST00000684642.1:c.1501C= ENSP00000507355.1:p.Pro501=
ENST00000684740.1:n.2282C=
ENST00000303236.9:c.2104C= MANE Select ENSP00000307235.3:p.Pro702=
ENST00000652099.1:c.2298C=
ENST00000652736.1:n.1980C=
ENST00000303236.7:c.2104C= ENSP00000307235.3:p.Pro702=
ENST00000415570.1:c.1741C= ENSP00000412076.1:p.Pro581=
ENST00000419748.5:c.1651C= ENSP00000408325.1:p.Pro551=
ENST00000470706.1:n.30C=
NM_001313915.1:c.1651C= NP_001300844.1:p.Pro551=
NM_004836.5:c.2104C= NP_004827.4:p.Pro702=
NM_004836.6:c.2104C= NP_004827.4:p.Pro702=
NR_110236.1:n.1516G=
XM_005264649.3:c.1420C= XP_005264706.1:p.Pro474=
XR_939749.1:n.2383C=
XM_017005376.2:c.1420C= XP_016860865.1:p.Pro474=
NM_004836.7:c.2104C= MANE Select NP_004827.4:p.Pro702=
NM_001313915.2:c.1651C= NP_001300844.1:p.Pro551=