Canonical Allele Identifier: CA347593049
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575445T>G , CM000664.2:g.88575445T>G GRCh38
NC_000002.11:g.88874963T>G , CM000664.1:g.88874963T>G GRCh37
NC_000002.10:g.88656078T>G NCBI36
NG_016424.1:g.57132A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1866A>C
ENST00000682276.1:n.1483A>C
ENST00000682892.1:c.1585A>C ENSP00000507214.1:p.Thr529Pro
ENST00000682952.1:n.1677A>C
ENST00000684455.1:c.1251A>C
ENST00000684642.1:c.1435A>C ENSP00000507355.1:p.Thr479Pro
ENST00000684740.1:n.2216A>C
ENST00000303236.9:c.2038A>C MANE Select ENSP00000307235.3:p.Thr680Pro
ENST00000652099.1:c.2232A>C
ENST00000652736.1:n.1914A>C
ENST00000303236.7:c.2038A>C ENSP00000307235.3:p.Thr680Pro
ENST00000415570.1:c.1675A>C ENSP00000412076.1:p.Thr559Pro
ENST00000419748.5:c.1585A>C ENSP00000408325.1:p.Thr529Pro
ENST00000478003.1:n.604A>C
NM_001313915.1:c.1585A>C NP_001300844.1:p.Thr529Pro
NM_004836.5:c.2038A>C NP_004827.4:p.Thr680Pro
NM_004836.6:c.2038A>C NP_004827.4:p.Thr680Pro
NR_110236.1:n.1582T>G
XM_005264649.3:c.1354A>C XP_005264706.1:p.Thr452Pro
XR_939749.1:n.2317A>C
XM_017005376.2:c.1354A>C XP_016860865.1:p.Thr452Pro
NM_004836.7:c.2038A>C MANE Select NP_004827.4:p.Thr680Pro
NM_001313915.2:c.1585A>C NP_001300844.1:p.Thr529Pro