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: CA237544214

Gene: OR6C64P HGNC NCBI
OR6C70 HGNC NCBI

Linked Data

dbSNP Id: rs1001232467

gnomAD v3: 12-55522904-C-A

gnomAD v4: 12-55522904-C-A

MyVariant Identifiers: chr12:g.55916688C>A (hg19) chr12:g.55522904C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55522904C>A , CM000674.2:g.55522904C>A	GRCh38
NC_000012.11:g.55916688C>A , CM000674.1:g.55916688C>A	GRCh37
NC_000012.10:g.54202955C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000419708.1:n.312C>A (OR6C64P)
XM_011538339.1:c.-147-29746G>T (OR6C70)	XP_011536641.1:n.-147-29746G>T
XM_011538340.1:c.-147-29746G>T (OR6C70)	XP_011536642.1:n.-147-29746G>T
XM_011538341.1:c.-147-29746G>T (OR6C70)	XP_011536643.1:n.-147-29746G>T

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