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: CA485125718

Gene: OR11H7 HGNC NCBI

Linked Data

gnomAD v4: 14-20229993-G-C

MyVariant Identifiers: chr14:g.20698152G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20229993G>C , CM000676.2:g.20229993G>C	GRCh38
NC_000014.8:g.20698152G>C , CM000676.1:g.20698152G>C	GRCh37
NC_000014.7:g.19767992G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000553765.2:c.592G>C	ENSP00000451021.2:p.Val198Leu
ENST00000553765.1:c.592G>C	ENSP00000451021.1:p.Val198Leu
NM_001348273.1:c.592G>C MANE Select	NP_001335202.1:p.Val198Leu
NR_145509.1:n.1013G>C

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