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: CA185745388

Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs532279678

gnomAD v3: 8-127472839-A-G

gnomAD v4: 8-127472839-A-G

MyVariant Identifiers: chr8:g.128485084A>G (hg19) chr8:g.127472839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127472839A>G , CM000670.2:g.127472839A>G	GRCh38
NC_000008.10:g.128485084A>G , CM000670.1:g.128485084A>G	GRCh37
NC_000008.9:g.128554266A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024393.1:n.1041+6244T>C
NR_117100.1:n.1041+6244T>C

Search 100 bp 5'

Search 100 bp 3'