Canonical Allele Identifier: CA522559876
Gene: EIF2B3 HGNC NCBI

Linked Data

dbSNP Id: rs1405126144
gnomAD v2: 1-45444141-C-A
gnomAD v3: 1-44978469-C-A
gnomAD v4: 1-44978469-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44978469C>A , CM000663.2:g.44978469C>A GRCh38
NC_000001.10:g.45444141C>A , CM000663.1:g.45444141C>A GRCh37
NC_000001.9:g.45216728C>A NCBI36
NG_015864.1:g.13221G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360403.7:c.149-9G>T MANE Select ENSP00000353575.2:n.149-9G>T
ENST00000360403.6:c.149-9G>T ENSP00000353575.2:n.149-9G>T
ENST00000372182.6:n.262-9G>T
ENST00000372183.7:c.149-9G>T ENSP00000361257.3:n.149-9G>T
ENST00000477953.5:n.252-9G>T
ENST00000480675.5:c.149-9G>T ENSP00000485842.1:n.149-9G>T
ENST00000487532.5:n.261-9G>T
ENST00000497010.1:n.261-9G>T
ENST00000620860.4:c.149-9G>T ENSP00000483996.1:n.149-9G>T
NM_001166588.2:c.149-9G>T NP_001160060.1:n.149-9G>T
NM_001261418.1:c.149-9G>T NP_001248347.1:n.149-9G>T
NM_020365.4:c.149-9G>T NP_065098.1:n.149-9G>T
XM_011542396.1:c.149-9G>T XP_011540698.1:n.149-9G>T
XM_017002745.2:c.149-9G>T XP_016858234.1:n.149-9G>T
XM_017002746.1:c.-306-9G>T XP_016858235.1:n.-306-9G>T
XM_017002747.1:c.-306-9G>T XP_016858236.1:n.-306-9G>T
NM_020365.5:c.149-9G>T MANE Select NP_065098.1:n.149-9G>T
NM_001166588.3:c.149-9G>T NP_001160060.1:n.149-9G>T
NM_001261418.2:c.149-9G>T NP_001248347.1:n.149-9G>T