Canonical Allele Identifier: CA2588321534
Gene: EIF3G HGNC NCBI

Linked Data

gnomAD v4: 19-10115425-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115425G>T , CM000681.2:g.10115425G>T GRCh38
NC_000019.9:g.10226101G>T , CM000681.1:g.10226101G>T GRCh37
NC_000019.8:g.10087101G>T NCBI36
NG_047007.1:g.8905G>T
NG_051197.1:g.9500C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253108.9:c.947+54C>A MANE Select ENSP00000253108.3:n.947+54C>A
ENST00000253108.8:c.947+54C>A ENSP00000253108.3:n.947+54C>A
ENST00000590158.1:n.966+54C>A
ENST00000593054.5:c.341+54C>A ENSP00000467187.1:n.341+54C>A
NM_003755.3:c.947+54C>A NP_003746.2:n.947+54C>A
NM_003755.4:c.947+54C>A NP_003746.2:n.947+54C>A
NM_003755.5:c.947+54C>A MANE Select NP_003746.2:n.947+54C>A
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