Canonical Allele Identifier: CA347595664
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88590584C>G , CM000664.2:g.88590584C>G GRCh38
NC_000002.11:g.88890102C>G , CM000664.1:g.88890102C>G GRCh37
NC_000002.10:g.88671217C>G NCBI36
NG_016424.1:g.41993G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000681996.1:n.2215G>C
ENST00000682276.1:n.479G>C
ENST00000682892.1:c.571G>C ENSP00000507214.1:p.Ala191Pro
ENST00000682952.1:n.663G>C
ENST00000684455.1:c.237G>C
ENST00000684642.1:c.421G>C ENSP00000507355.1:p.Ala141Pro
ENST00000303236.9:c.1024G>C MANE Select ENSP00000307235.3:p.Ala342Pro
ENST00000652099.1:c.1218G>C
ENST00000652736.1:n.900G>C
ENST00000303236.7:c.1024G>C ENSP00000307235.3:p.Ala342Pro
ENST00000415570.1:c.661G>C ENSP00000412076.1:p.Ala221Pro
ENST00000419748.5:c.571G>C ENSP00000408325.1:p.Ala191Pro
NM_001313915.1:c.571G>C NP_001300844.1:p.Ala191Pro
NM_004836.5:c.1024G>C NP_004827.4:p.Ala342Pro
NM_004836.6:c.1024G>C NP_004827.4:p.Ala342Pro
XM_005264649.3:c.340G>C XP_005264706.1:p.Ala114Pro
XR_939749.1:n.1233G>C
XM_017005376.2:c.340G>C XP_016860865.1:p.Ala114Pro
NM_004836.7:c.1024G>C MANE Select NP_004827.4:p.Ala342Pro
NM_001313915.2:c.571G>C NP_001300844.1:p.Ala191Pro