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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:
CA403957591
Gene: EIF3G
HGNC
NCBI
Linked Data
gnomAD v4:
19-10115479-T-C
MyVariant Identifiers:
chr19:g.10226155T>C (hg19)
chr19:g.10115479T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10115479T>C , CM000681.2:g.10115479T>C
GRCh38
NC_000019.9:g.10226155T>C , CM000681.1:g.10226155T>C
GRCh37
NC_000019.8:g.10087155T>C
NCBI36
NG_047007.1:g.8959T>C
NG_051197.1:g.9446A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000253108.9:c.947A>G
MANE Select
ENSP00000253108.3:p.Lys316Arg
ENST00000253108.8:c.947A>G
ENSP00000253108.3:p.Lys316Arg
ENST00000590158.1:n.966A>G
ENST00000593054.5:c.341A>G
ENSP00000467187.1:p.Lys114Arg
NM_003755.3:c.947A>G
NP_003746.2:p.Lys316Arg
NM_003755.4:c.947A>G
NP_003746.2:p.Lys316Arg
NM_003755.5:c.947A>G
MANE Select
NP_003746.2:p.Lys316Arg
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