Canonical Allele Identifier: CA88843349
Gene: EIF2B5 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs113994076

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184142032C>T , CM000665.2:g.184142032C>T GRCh38
NC_000003.11:g.183859820C>T , CM000665.1:g.183859820C>T GRCh37
NC_000003.10:g.185342514C>T NCBI36
NG_015826.1:g.12011C>T

Transcript Alleles

HGVS Amino-acid change
NM_003907.2:c.1264C>T VV NP_003898.2:p.Arg422Ter
XM_011513265.1:c.514C>T XP_011511567.1:p.Arg172Ter
XM_011513266.1:c.427C>T XP_011511568.1:p.Arg143Ter
XR_924208.1:n.2215C>T
NM_003907.3:c.1264C>T VV
XM_011513266.3:c.427C>T
XR_001740352.2:n.1627C>T
XR_001740353.2:n.1627C>T
XR_924208.2:n.1627C>T
ENST00000273783.7:c.1264C>T ENSP00000273783.3:p.Arg422Ter
ENST00000432982.5:n.246-205C>T
ENST00000444495.1:c.1264C>T ENSP00000409142.1:p.Arg422Ter
ENST00000479833.1:n.465C>T
ENST00000481054.5:n.1358C>T
ENST00000491144.5:n.1768C>T
ENST00000492773.5:n.147C>T