Canonical Allele Identifier: CA1268228997
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625027A= , CM000664.2:g.88625027A= GRCh38
NC_000002.11:g.88924545A= , CM000664.1:g.88924545A= GRCh37
NC_000002.10:g.88705660A= NCBI36
NG_016424.1:g.7550T=

Transcript Alleles

HGVS Amino-acid change
ENST00000682892.1:c.-145-11174T= ENSP00000507214.1:n.-145-11174T=
ENST00000303236.9:c.308+1940T= MANE Select ENSP00000307235.3:n.308+1940T=
ENST00000652099.1:c.306+1940T=
ENST00000652423.1:c.184+1940T= ENSP00000498948.1:n.184+1940T=
ENST00000303236.7:c.308+1940T= ENSP00000307235.3:n.308+1940T=
NM_004836.5:c.308+1940T= NP_004827.4:n.308+1940T=
NM_004836.6:c.308+1940T= NP_004827.4:n.308+1940T=
XR_939749.1:n.517+1940T=
XM_017005376.2:c.-573+1940T= XP_016860865.1:n.-573+1940T=
NM_004836.7:c.308+1940T= MANE Select NP_004827.4:n.308+1940T=