Canonical Allele Identifier: CA1268208180
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575291G= , CM000664.2:g.88575291G= GRCh38
NC_000002.11:g.88874809G= , CM000664.1:g.88874809G= GRCh37
NC_000002.10:g.88655924G= NCBI36
NG_016424.1:g.57286C=

Transcript Alleles

HGVS Amino-acid change
ENST00000478003.2:n.2020C=
ENST00000682276.1:n.1637C=
ENST00000682892.1:c.1739C= ENSP00000507214.1:p.Thr580=
ENST00000682952.1:n.1831C=
ENST00000684455.1:c.1405C=
ENST00000684642.1:c.1589C= ENSP00000507355.1:p.Thr530=
ENST00000684740.1:n.2370C=
ENST00000303236.9:c.2192C= MANE Select ENSP00000307235.3:p.Thr731=
ENST00000652099.1:c.2386C=
ENST00000652736.1:n.2068C=
ENST00000303236.7:c.2192C= ENSP00000307235.3:p.Thr731=
ENST00000415570.1:c.1829C= ENSP00000412076.1:p.Thr610=
ENST00000419748.5:c.1739C= ENSP00000408325.1:p.Thr580=
ENST00000470706.1:n.48+70C=
NM_001313915.1:c.1739C= NP_001300844.1:p.Thr580=
NM_004836.5:c.2192C= NP_004827.4:p.Thr731=
NM_004836.6:c.2192C= NP_004827.4:p.Thr731=
NR_110236.1:n.1428G=
XM_005264649.3:c.1508C= XP_005264706.1:p.Thr503=
XR_939749.1:n.2471C=
XM_017005376.2:c.1508C= XP_016860865.1:p.Thr503=
NM_004836.7:c.2192C= MANE Select NP_004827.4:p.Thr731=
NM_001313915.2:c.1739C= NP_001300844.1:p.Thr580=