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: CA215023066

Gene: EMX2OS HGNC NCBI

Linked Data

dbSNP Id: rs917764482

gnomAD v3: 10-117524844-C-A

gnomAD v4: 10-117524844-C-A

MyVariant Identifiers: chr10:g.119284355C>A (hg19) chr10:g.117524844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117524844C>A , CM000672.2:g.117524844C>A	GRCh38
NC_000010.10:g.119284355C>A , CM000672.1:g.119284355C>A	GRCh37
NC_000010.9:g.119274345C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_002791.2:n.574+19462G>T
NR_144378.1:n.493+17253G>T

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