Canonical Allele Identifier: CA347593351

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88576678G>A , CM000664.2:g.88576678G>A	GRCh38
NC_000002.11:g.88876196G>A , CM000664.1:g.88876196G>A	GRCh37
NC_000002.10:g.88657311G>A	NCBI36
NG_016424.1:g.55899C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1912C>T MANE Select	NP_004827.4:p.Arg638Ter
ENST00000303236.9:c.1912C>T MANE Select	ENSP00000307235.3:p.Arg638Ter
NM_001313915.1:c.1459C>T	NP_001300844.1:p.Arg487Ter
NM_001313915.2:c.1459C>T	NP_001300844.1:p.Arg487Ter
NM_004836.5:c.1912C>T	NP_004827.4:p.Arg638Ter
NM_004836.6:c.1912C>T	NP_004827.4:p.Arg638Ter
ENST00000303236.7:c.1912C>T	ENSP00000307235.3:p.Arg638Ter
ENST00000415570.1:c.1549C>T	ENSP00000412076.1:p.Arg517Ter
ENST00000419748.5:c.1459C>T	ENSP00000408325.1:p.Arg487Ter
ENST00000478003.1:n.478C>T
ENST00000478003.2:n.1740C>T
ENST00000652099.1:c.2106C>T
ENST00000652736.1:n.1788C>T
ENST00000682276.1:n.1357C>T
ENST00000682892.1:c.1459C>T	ENSP00000507214.1:p.Arg487Ter
ENST00000682952.1:n.1551C>T
ENST00000684455.1:c.1125C>T
ENST00000684642.1:c.1309C>T	ENSP00000507355.1:p.Arg437Ter
ENST00000684740.1:n.2090C>T
XM_005264649.3:c.1228C>T	XP_005264706.1:p.Arg410Ter
XM_017005376.2:c.1228C>T	XP_016860865.1:p.Arg410Ter
XR_939749.1:n.2191C>T