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: CA119478160

Gene: PART1 HGNC NCBI

Linked Data

dbSNP Id: rs915027028

gnomAD v3: 5-60529408-C-A

gnomAD v4: 5-60529408-C-A

MyVariant Identifiers: chr5:g.59825235C>A (hg19) chr5:g.60529408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529408C>A , CM000667.2:g.60529408C>A	GRCh38
NC_000005.9:g.59825235C>A , CM000667.1:g.59825235C>A	GRCh37
NC_000005.8:g.59860992C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024617.1:n.716C>A

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