Canonical Allele Identifier: CA2575341210
Gene: EIF2B1 HGNC NCBI

Linked Data

gnomAD v4: 12-123630324-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630324C>T , CM000674.2:g.123630324C>T GRCh38
NC_000012.11:g.124114871C>T , CM000674.1:g.124114871C>T GRCh37
NC_000012.10:g.122680824C>T NCBI36
NG_015862.1:g.8453G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-39G>A MANE Select ENSP00000416250.2:n.253-39G>A
ENST00000424014.6:c.253-39G>A ENSP00000416250.2:n.253-39G>A
ENST00000452159.6:n.384-39G>A
ENST00000534960.5:c.300-39G>A
ENST00000537073.1:c.253-39G>A ENSP00000444183.1:n.253-39G>A
ENST00000539951.5:c.214-39G>A ENSP00000438060.1:n.214-39G>A
ENST00000543940.1:n.353-20G>A
NM_001414.3:c.253-39G>A NP_001405.1:n.253-39G>A
NM_001414.4:c.253-39G>A MANE Select NP_001405.1:n.253-39G>A
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