Canonical Allele Identifier: CA340101252

Gene: EIF2B3

Linked Data

• gnomAD v4: 1-44978343-G-A
• MyVariant Identifiers: chr1:g.45444015G>A (hg19) ; chr1:g.44978343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978343G>A , CM000663.2:g.44978343G>A	GRCh38
NC_000001.10:g.45444015G>A , CM000663.1:g.45444015G>A	GRCh37
NC_000001.9:g.45216602G>A	NCBI36
NG_015864.1:g.13347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.266C>T MANE Select	ENSP00000353575.2:p.Ser89Phe
ENST00000360403.6:c.266C>T	ENSP00000353575.2:p.Ser89Phe
ENST00000372182.6:n.379C>T
ENST00000372183.7:c.266C>T	ENSP00000361257.3:p.Ser89Phe
ENST00000477953.5:n.369C>T
ENST00000480675.5:c.266C>T	ENSP00000485842.1:p.Ser89Phe
ENST00000487532.5:n.378C>T
ENST00000497010.1:n.378C>T
ENST00000620860.4:c.266C>T	ENSP00000483996.1:p.Ser89Phe
NM_001166588.2:c.266C>T	NP_001160060.1:p.Ser89Phe
NM_001261418.1:c.266C>T	NP_001248347.1:p.Ser89Phe
NM_020365.4:c.266C>T	NP_065098.1:p.Ser89Phe
XM_011542396.1:c.266C>T	XP_011540698.1:p.Ser89Phe
XM_017002745.2:c.266C>T	XP_016858234.1:p.Ser89Phe
XM_017002746.1:c.-189C>T	XP_016858235.1:n.-189C>T
XM_017002747.1:c.-189C>T	XP_016858236.1:n.-189C>T
NM_020365.5:c.266C>T MANE Select	NP_065098.1:p.Ser89Phe
NM_001166588.3:c.266C>T	NP_001160060.1:p.Ser89Phe
NM_001261418.2:c.266C>T	NP_001248347.1:p.Ser89Phe