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: CA155228662

Gene: STEAP1B HGNC NCBI

Linked Data

dbSNP Id: rs991005484

gnomAD v2: 7-22756406-G-A

MyVariant Identifiers: chr7:g.22756406G>A (hg19) chr7:g.22716787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22716787G>A , CM000669.2:g.22716787G>A	GRCh38
NC_000007.13:g.22756406G>A , CM000669.1:g.22756406G>A	GRCh37
NC_000007.12:g.22722931G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000650428.1:n.46+10781C>T

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