Canonical Allele Identifier: CA1754546

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88576643C>T , CM000664.2:g.88576643C>T	GRCh38
NC_000002.11:g.88876161C>T , CM000664.1:g.88876161C>T	GRCh37
NC_000002.10:g.88657276C>T	NCBI36
NG_016424.1:g.55934G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1947G>A MANE Select	NP_004827.4:p.Pro649=
ENST00000303236.9:c.1947G>A MANE Select	ENSP00000307235.3:p.Pro649=
NM_001313915.1:c.1494G>A	NP_001300844.1:p.Pro498=
NM_001313915.2:c.1494G>A	NP_001300844.1:p.Pro498=
NM_004836.5:c.1947G>A	NP_004827.4:p.Pro649=
NM_004836.6:c.1947G>A	NP_004827.4:p.Pro649=
ENST00000303236.7:c.1947G>A	ENSP00000307235.3:p.Pro649=
ENST00000415570.1:c.1584G>A	ENSP00000412076.1:p.Pro528=
ENST00000419748.5:c.1494G>A	ENSP00000408325.1:p.Pro498=
ENST00000478003.1:n.513G>A
ENST00000478003.2:n.1775G>A
ENST00000652099.1:c.2141G>A
ENST00000652736.1:n.1823G>A
ENST00000682276.1:n.1392G>A
ENST00000682892.1:c.1494G>A	ENSP00000507214.1:p.Pro498=
ENST00000682952.1:n.1586G>A
ENST00000684455.1:c.1160G>A
ENST00000684642.1:c.1344G>A	ENSP00000507355.1:p.Pro448=
ENST00000684740.1:n.2125G>A
XM_005264649.3:c.1263G>A	XP_005264706.1:p.Pro421=
XM_017005376.2:c.1263G>A	XP_016860865.1:p.Pro421=
XR_939749.1:n.2226G>A