Canonical Allele Identifier: CA21786529
Gene: EIF2B3 HGNC NCBI

Linked Data

dbSNP Id: rs113994025

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44875648A>C , CM000663.2:g.44875648A>C GRCh38
NC_000001.10:g.45341320A>C , CM000663.1:g.45341320A>C GRCh37
NC_000001.9:g.45113907A>C NCBI36
NG_015864.1:g.116042T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360403.7:c.1023T>G MANE Select ENSP00000353575.2:p.His341Gln
ENST00000360403.6:c.1023T>G ENSP00000353575.2:p.His341Gln
ENST00000372183.7:c.1023T>G ENSP00000361257.3:p.His341Gln
ENST00000439363.5:c.485T>G
ENST00000620860.4:c.1023T>G ENSP00000483996.1:p.His341Gln
NM_001166588.2:c.1023T>G NP_001160060.1:p.His341Gln
NM_001261418.1:c.1023T>G NP_001248347.1:p.His341Gln
NM_020365.4:c.1023T>G NP_065098.1:p.His341Gln
XM_011542396.1:c.933T>G XP_011540698.1:p.His311Gln
XM_017002745.2:c.1023T>G XP_016858234.1:p.His341Gln
XM_017002746.1:c.636T>G XP_016858235.1:p.His212Gln
XM_017002747.1:c.636T>G XP_016858236.1:p.His212Gln
NM_020365.5:c.1023T>G MANE Select NP_065098.1:p.His341Gln
NM_001166588.3:c.1023T>G NP_001160060.1:p.His341Gln
NM_001261418.2:c.1023T>G NP_001248347.1:p.His341Gln