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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:
CA232165
Gene: OR4D11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91922
ClinVar RCV Id:
RCV000122479
dbSNP Id:
rs386352341
ExAC:
11:59271623 C / A
gnomAD v2:
11-59271623-C-A
gnomAD v4:
11-59504150-C-A
MyVariant Identifiers:
chr11:g.59271623C>A (hg19)
chr11:g.59504150C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.59504150C>A , CM000673.2:g.59504150C>A
GRCh38
NC_000011.9:g.59271623C>A , CM000673.1:g.59271623C>A
GRCh37
NC_000011.8:g.59028199C>A
NCBI36
NG_053129.1:g.5575C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000313253.1:c.575C>A
MANE Select
ENSP00000320077.1:p.Thr192Asn
NM_001004706.1:c.575C>A
MANE Select
NP_001004706.1:p.Thr192Asn
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