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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:
CA174796
Gene: OR5AC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161794
ClinVar RCV Id:
RCV000149330
dbSNP Id:
rs193920759
gnomAD v2:
3-97806746-G-A
gnomAD v3:
3-98087902-G-A
gnomAD v4:
3-98087902-G-A
COSMIC:
COSM1178646
MyVariant Identifiers:
chr3:g.97806746G>A (hg19)
chr3:g.98087902G>A (hg38)
PubMed:
PMID:23265383
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.98087902G>A , CM000665.2:g.98087902G>A
GRCh38
NC_000003.11:g.97806746G>A , CM000665.1:g.97806746G>A
GRCh37
NC_000003.10:g.99289436G>A
NCBI36
NG_054917.1:g.5730G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000358642.2:c.730G>A
MANE Select
ENSP00000351466.2:p.Gly244Ser
NM_054106.1:c.730G>A
MANE Select
NP_473447.1:p.Gly244Ser
Search 100 bp 5'
Search 100 bp 3'