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: CA652614950

Gene: CCDC26 HGNC NCBI

Linked Data

dbSNP Id: rs376222318

gnomAD v3: 8-129601439-C-A

gnomAD v4: 8-129601439-C-A

MyVariant Identifiers: chr8:g.130613685C>A (hg19) chr8:g.129601439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.129601439C>A , CM000670.2:g.129601439C>A	GRCh38
NC_000008.10:g.130613685C>A , CM000670.1:g.130613685C>A	GRCh37
NC_000008.9:g.130682867C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_130917.1:n.312+78489G>T

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