Canonical Allele Identifier: CA5713340
Gene: EIF3A HGNC NCBI

Linked Data

dbSNP Id: rs200852678
ExAC: 10:120810022 G / C
gnomAD v2: 10-120810022-G-C
gnomAD v4: 10-119050510-G-C
MyVariant Identifiers: chr10:g.120810022G>C (hg19) chr10:g.119050510G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119050510G>C , CM000672.2:g.119050510G>C GRCh38
NC_000010.10:g.120810022G>C , CM000672.1:g.120810022G>C GRCh37
NC_000010.9:g.120800012G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369144.8:c.2473+11C>G MANE Select ENSP00000358140.3:n.2473+11C>G
ENST00000369144.7:c.2473+11C>G ENSP00000358140.3:n.2473+11C>G
ENST00000541549.2:c.2473+11C>G ENSP00000438178.2:n.2473+11C>G
NM_003750.2:c.2473+11C>G NP_003741.1:n.2473+11C>G
NM_003750.3:c.2473+11C>G NP_003741.1:n.2473+11C>G
NM_003750.4:c.2473+11C>G MANE Select NP_003741.1:n.2473+11C>G
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