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: CA853453071

Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1288168349

gnomAD v3: 8-56447939-T-A

gnomAD v4: 8-56447939-T-A

MyVariant Identifiers: chr8:g.57360498T>A (hg19) chr8:g.56447939T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447939T>A , CM000670.2:g.56447939T>A	GRCh38
NC_000008.10:g.57360498T>A , CM000670.1:g.57360498T>A	GRCh37
NC_000008.9:g.57523052T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1439T>A

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