Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA678552869

Gene: OR2AH1P HGNC NCBI

Linked Data

dbSNP Id: rs1260512508

gnomAD v3: 11-56672790-G-A

gnomAD v4: 11-56672790-G-A

MyVariant Identifiers: chr11:g.56440266G>A (hg19) chr11:g.56672790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.56672790G>A , CM000673.2:g.56672790G>A	GRCh38
NC_000011.9:g.56440266G>A , CM000673.1:g.56440266G>A	GRCh37
NC_000011.8:g.56196842G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000641232.1:n.179+1358C>T

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