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: CA257335378

Gene: OR11H7 HGNC NCBI

Linked Data

dbSNP Id: rs563351078

gnomAD v3: 14-20229988-G-A

gnomAD v4: 14-20229988-G-A

MyVariant Identifiers: chr14:g.20698147G>A (hg19) chr14:g.20229988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20229988G>A , CM000676.2:g.20229988G>A	GRCh38
NC_000014.8:g.20698147G>A , CM000676.1:g.20698147G>A	GRCh37
NC_000014.7:g.19767987G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000553765.2:c.587G>A	ENSP00000451021.2:p.Gly196Glu
ENST00000553765.1:c.587G>A	ENSP00000451021.1:p.Gly196Glu
NM_001348273.1:c.587G>A MANE Select	NP_001335202.1:p.Gly196Glu
NR_145509.1:n.1008G>A

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