Canonical Allele Identifier: CA2842086209

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625200T>G , CM000664.2:g.88625200T>G	GRCh38
NC_000002.11:g.88924718T>G , CM000664.1:g.88924718T>G	GRCh37
NC_000002.10:g.88705833T>G	NCBI36
NG_016424.1:g.7377A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682892.1:c.-145-11347A>C	ENSP00000507214.1:n.-145-11347A>C
ENST00000303236.9:c.308+1767A>C MANE Select	ENSP00000307235.3:n.308+1767A>C
ENST00000652099.1:c.306+1767A>C
ENST00000652423.1:c.184+1767A>C	ENSP00000498948.1:n.184+1767A>C
ENST00000303236.7:c.308+1767A>C	ENSP00000307235.3:n.308+1767A>C
NM_004836.5:c.308+1767A>C	NP_004827.4:n.308+1767A>C
NM_004836.6:c.308+1767A>C	NP_004827.4:n.308+1767A>C
XR_939749.1:n.517+1767A>C
XM_017005376.2:c.-573+1767A>C	XP_016860865.1:n.-573+1767A>C
NM_004836.7:c.308+1767A>C MANE Select	NP_004827.4:n.308+1767A>C