Canonical Allele Identifier: CA340101246

Gene: EIF2B3

Linked Data

• dbSNP Id: rs1166774581
• gnomAD v3: 1-44978341-A-C
• gnomAD v4: 1-44978341-A-C
• MyVariant Identifiers: chr1:g.45444013A>C (hg19) ; chr1:g.44978341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978341A>C , CM000663.2:g.44978341A>C	GRCh38
NC_000001.10:g.45444013A>C , CM000663.1:g.45444013A>C	GRCh37
NC_000001.9:g.45216600A>C	NCBI36
NG_015864.1:g.13349T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.268T>G MANE Select	ENSP00000353575.2:p.Leu90Val
ENST00000360403.6:c.268T>G	ENSP00000353575.2:p.Leu90Val
ENST00000372182.6:n.381T>G
ENST00000372183.7:c.268T>G	ENSP00000361257.3:p.Leu90Val
ENST00000477953.5:n.371T>G
ENST00000480675.5:c.268T>G	ENSP00000485842.1:p.Leu90Val
ENST00000487532.5:n.380T>G
ENST00000497010.1:n.380T>G
ENST00000620860.4:c.268T>G	ENSP00000483996.1:p.Leu90Val
NM_001166588.2:c.268T>G	NP_001160060.1:p.Leu90Val
NM_001261418.1:c.268T>G	NP_001248347.1:p.Leu90Val
NM_020365.4:c.268T>G	NP_065098.1:p.Leu90Val
XM_011542396.1:c.268T>G	XP_011540698.1:p.Leu90Val
XM_017002745.2:c.268T>G	XP_016858234.1:p.Leu90Val
XM_017002746.1:c.-187T>G	XP_016858235.1:n.-187T>G
XM_017002747.1:c.-187T>G	XP_016858236.1:n.-187T>G
NM_020365.5:c.268T>G MANE Select	NP_065098.1:p.Leu90Val
NM_001166588.3:c.268T>G	NP_001160060.1:p.Leu90Val
NM_001261418.2:c.268T>G	NP_001248347.1:p.Leu90Val