Canonical Allele Identifier: CA2611124116
Gene: EIF3A HGNC NCBI

Linked Data

gnomAD v4: 10-119050497-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119050497T>C , CM000672.2:g.119050497T>C GRCh38
NC_000010.10:g.120810009T>C , CM000672.1:g.120810009T>C GRCh37
NC_000010.9:g.120799999T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369144.8:c.2473+24A>G MANE Select ENSP00000358140.3:n.2473+24A>G
ENST00000369144.7:c.2473+24A>G ENSP00000358140.3:n.2473+24A>G
ENST00000541549.2:c.2473+24A>G ENSP00000438178.2:n.2473+24A>G
NM_003750.2:c.2473+24A>G NP_003741.1:n.2473+24A>G
NM_003750.3:c.2473+24A>G NP_003741.1:n.2473+24A>G
NM_003750.4:c.2473+24A>G MANE Select NP_003741.1:n.2473+24A>G
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