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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA378286441
Gene: EIF3A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.120810078T>G (hg19)
chr10:g.119050566T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119050566T>G , CM000672.2:g.119050566T>G
GRCh38
NC_000010.10:g.120810078T>G , CM000672.1:g.120810078T>G
GRCh37
NC_000010.9:g.120800068T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000369144.8:c.2428A>C
MANE Select
ENSP00000358140.3:p.Lys810Gln
ENST00000369144.7:c.2428A>C
ENSP00000358140.3:p.Lys810Gln
ENST00000541549.2:c.2428A>C
ENSP00000438178.2:p.Lys810Gln
NM_003750.2:c.2428A>C
NP_003741.1:p.Lys810Gln
NM_003750.3:c.2428A>C
NP_003741.1:p.Lys810Gln
NM_003750.4:c.2428A>C
MANE Select
NP_003741.1:p.Lys810Gln
Search 100 bp 5'
Search 100 bp 3'