Canonical Allele Identifier: CA340101174

Gene: EIF2B3

Linked Data

• dbSNP Id: rs1644473604
• gnomAD v3: 1-44978322-T-C
• gnomAD v4: 1-44978322-T-C
• MyVariant Identifiers: chr1:g.45443994T>C (hg19) ; chr1:g.44978322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978322T>C , CM000663.2:g.44978322T>C	GRCh38
NC_000001.10:g.45443994T>C , CM000663.1:g.45443994T>C	GRCh37
NC_000001.9:g.45216581T>C	NCBI36
NG_015864.1:g.13368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.287A>G MANE Select	ENSP00000353575.2:p.Lys96Arg
ENST00000360403.6:c.287A>G	ENSP00000353575.2:p.Lys96Arg
ENST00000372182.6:n.400A>G
ENST00000372183.7:c.287A>G	ENSP00000361257.3:p.Lys96Arg
ENST00000477953.5:n.390A>G
ENST00000480675.5:c.287A>G	ENSP00000485842.1:p.Lys96Arg
ENST00000487532.5:n.399A>G
ENST00000497010.1:n.399A>G
ENST00000620860.4:c.287A>G	ENSP00000483996.1:p.Lys96Arg
NM_001166588.2:c.287A>G	NP_001160060.1:p.Lys96Arg
NM_001261418.1:c.287A>G	NP_001248347.1:p.Lys96Arg
NM_020365.4:c.287A>G	NP_065098.1:p.Lys96Arg
XM_011542396.1:c.287A>G	XP_011540698.1:p.Lys96Arg
XM_017002745.2:c.287A>G	XP_016858234.1:p.Lys96Arg
XM_017002746.1:c.-168A>G	XP_016858235.1:n.-168A>G
XM_017002747.1:c.-168A>G	XP_016858236.1:n.-168A>G
NM_020365.5:c.287A>G MANE Select	NP_065098.1:p.Lys96Arg
NM_001166588.3:c.287A>G	NP_001160060.1:p.Lys96Arg
NM_001261418.2:c.287A>G	NP_001248347.1:p.Lys96Arg