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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:
CA129857
Gene: GNAI3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31636
ClinVar RCV Id:
RCV000024332
dbSNP Id:
rs387907178
MyVariant Identifiers:
chr1:g.110091460G>C (hg19)
chr1:g.109548838G>C (hg38)
PubMed:
PMID:11102934
PMID:22560091
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.109548838G>C , CM000663.2:g.109548838G>C
GRCh38
NC_000001.10:g.110091460G>C , CM000663.1:g.110091460G>C
GRCh37
NC_000001.9:g.109892983G>C
NCBI36
NG_032795.1:g.5275G>C
NG_032758.2:g.13967G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000369851.7:c.118G>C
MANE Select
ENSP00000358867.4:p.Gly40Arg
ENST00000369851.5:c.118G>C
ENSP00000358867.4:p.Gly40Arg
NM_006496.3:c.118G>C
NP_006487.1:p.Gly40Arg
NM_006496.4:c.118G>C
MANE Select
NP_006487.1:p.Gly40Arg
Search 100 bp 5'
Search 100 bp 3'