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: CA836768265

Gene: STEAP1B HGNC NCBI

Linked Data

dbSNP Id: rs1197459842

gnomAD v3: 7-22719943-C-G

gnomAD v4: 7-22719943-C-G

MyVariant Identifiers: chr7:g.22759562C>G (hg19) chr7:g.22719943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22719943C>G , CM000669.2:g.22719943C>G	GRCh38
NC_000007.13:g.22759562C>G , CM000669.1:g.22759562C>G	GRCh37
NC_000007.12:g.22726087C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000650428.1:n.46+7625G>C

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