Canonical Allele Identifier: CA391685629
Gene: EIF2AK4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978098G>C , CM000677.2:g.39978098G>C GRCh38
NC_000015.9:g.40270299G>C , CM000677.1:g.40270299G>C GRCh37
NC_000015.8:g.38057591G>C NCBI36
NG_034053.1:g.48975G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.2270G>C MANE Select ENSP00000263791.5:p.Ser757Thr
ENST00000263791.9:c.2270G>C ENSP00000263791.5:p.Ser757Thr
ENST00000560855.5:c.1686G>C
ENST00000624709.1:n.1120G>C
NM_001013703.3:c.2270G>C NP_001013725.2:p.Ser757Thr
XM_005254392.1:c.2270G>C XP_005254449.1:p.Ser757Thr
XM_011521599.1:c.2270G>C XP_011519901.1:p.Ser757Thr
XM_011521600.1:c.2270G>C XP_011519902.1:p.Ser757Thr
XM_005254392.3:c.2270G>C XP_005254449.1:p.Ser757Thr
XM_011521599.2:c.2270G>C XP_011519901.1:p.Ser757Thr
XM_011521600.3:c.2270G>C XP_011519902.1:p.Ser757Thr
XM_017022219.2:c.2270G>C XP_016877708.1:p.Ser757Thr
NM_001013703.4:c.2270G>C MANE Select NP_001013725.2:p.Ser757Thr