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: CA1119004537

Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1815899149

gnomAD v3: 8-127473738-C-A

gnomAD v4: 8-127473738-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473738C>A , CM000670.2:g.127473738C>A	GRCh38
NC_000008.10:g.128485983C>A , CM000670.1:g.128485983C>A	GRCh37
NC_000008.9:g.128555165C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024393.1:n.1041+5345G>T
NR_117100.1:n.1041+5345G>T

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