Canonical Allele Identifier: CA1268208211
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575361G= , CM000664.2:g.88575361G= GRCh38
NC_000002.11:g.88874879G= , CM000664.1:g.88874879G= GRCh37
NC_000002.10:g.88655994G= NCBI36
NG_016424.1:g.57216C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1950C=
ENST00000682276.1:n.1567C=
ENST00000682892.1:c.1669C= ENSP00000507214.1:p.His557=
ENST00000682952.1:n.1761C=
ENST00000684455.1:c.1335C=
ENST00000684642.1:c.1519C= ENSP00000507355.1:p.His507=
ENST00000684740.1:n.2300C=
ENST00000303236.9:c.2122C= MANE Select ENSP00000307235.3:p.His708=
ENST00000652099.1:c.2316C=
ENST00000652736.1:n.1998C=
ENST00000303236.7:c.2122C= ENSP00000307235.3:p.His708=
ENST00000415570.1:c.1759C= ENSP00000412076.1:p.His587=
ENST00000419748.5:c.1669C= ENSP00000408325.1:p.His557=
ENST00000470706.1:n.48C=
NM_001313915.1:c.1669C= NP_001300844.1:p.His557=
NM_004836.5:c.2122C= NP_004827.4:p.His708=
NM_004836.6:c.2122C= NP_004827.4:p.His708=
NR_110236.1:n.1498G=
XM_005264649.3:c.1438C= XP_005264706.1:p.His480=
XR_939749.1:n.2401C=
XM_017005376.2:c.1438C= XP_016860865.1:p.His480=
NM_004836.7:c.2122C= MANE Select NP_004827.4:p.His708=
NM_001313915.2:c.1669C= NP_001300844.1:p.His557=