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: CA185773347

Gene: CASC11 HGNC NCBI

Linked Data

dbSNP Id: rs942273255

gnomAD v2: 8-128719821-T-C

MyVariant Identifiers: chr8:g.128719821T>C (hg19) chr8:g.127707576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127707576T>C , CM000670.2:g.127707576T>C	GRCh38
NC_000008.10:g.128719821T>C , CM000670.1:g.128719821T>C	GRCh37
NC_000008.9:g.128789003T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_117102.1:n.366-4333A>G

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