Canonical Allele Identifier: CA21763794
Gene: EIF2B3 HGNC NCBI

Linked Data

dbSNP Id: rs113994021
MyVariant Identifiers: chr1:g.45446705C>T (hg19) chr1:g.44981033C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44981033C>T , CM000663.2:g.44981033C>T GRCh38
NC_000001.10:g.45446705C>T , CM000663.1:g.45446705C>T GRCh37
NC_000001.9:g.45219292C>T NCBI36
NG_015864.1:g.10657G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360403.7:c.136G>A MANE Select ENSP00000353575.2:p.Val46Ile
ENST00000360403.6:c.136G>A ENSP00000353575.2:p.Val46Ile
ENST00000372182.6:n.249G>A
ENST00000372183.7:c.136G>A ENSP00000361257.3:p.Val46Ile
ENST00000477953.5:n.239G>A
ENST00000480675.5:c.136G>A ENSP00000485842.1:p.Val46Ile
ENST00000487532.5:n.248G>A
ENST00000497010.1:n.248G>A
ENST00000620860.4:c.136G>A ENSP00000483996.1:p.Val46Ile
NM_001166588.2:c.136G>A NP_001160060.1:p.Val46Ile
NM_001261418.1:c.136G>A NP_001248347.1:p.Val46Ile
NM_020365.4:c.136G>A NP_065098.1:p.Val46Ile
XM_011542396.1:c.136G>A XP_011540698.1:p.Val46Ile
XM_017002745.2:c.136G>A XP_016858234.1:p.Val46Ile
XM_017002746.1:c.-319G>A XP_016858235.1:n.-319G>A
XM_017002747.1:c.-319G>A XP_016858236.1:n.-319G>A
NM_020365.5:c.136G>A MANE Select NP_065098.1:p.Val46Ile
NM_001166588.3:c.136G>A NP_001160060.1:p.Val46Ile
NM_001261418.2:c.136G>A NP_001248347.1:p.Val46Ile
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