Canonical Allele Identifier: CA152713
Gene: EIF2AK3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128986
dbSNP Id: rs1805165

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575373C>A , CM000664.2:g.88575373C>A GRCh38
NC_000002.11:g.88874891C>A , CM000664.1:g.88874891C>A GRCh37
NC_000002.10:g.88656006C>A NCBI36
NG_016424.1:g.57204G>T

Transcript Alleles

HGVS Amino-acid change
NM_001313915.1:c.1657G>T VV NP_001300844.1:p.Ala553Ser
NM_004836.5:c.2110G>T VV NP_004827.4:p.Ala704Ser
NM_004836.6:c.2110G>T VV NP_004827.4:p.Ala704Ser
NR_110236.1:n.1510C>A
XM_005264649.3:c.1426G>T XP_005264706.1:p.Ala476Ser
XR_939749.1:n.2389G>T
XM_017005376.2:c.1426G>T XP_016860865.1:p.Ala476Ser
ENST00000303236.7:c.2110G>T ENSP00000307235.3:p.Ala704Ser
ENST00000415570.1:c.1747G>T ENSP00000412076.1:p.Ala583Ser
ENST00000419748.5:c.1657G>T ENSP00000408325.1:p.Ala553Ser
ENST00000470706.1:n.36G>T