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: CA1012539413

Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1673642053

gnomAD v3: 1-220836876-C-A

gnomAD v4: 1-220836876-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836876C>A , CM000663.2:g.220836876C>A	GRCh38
NC_000001.10:g.221010218C>A , CM000663.1:g.221010218C>A	GRCh37
NC_000001.9:g.219076841C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651706.1:c.842+31602C>A	ENSP00000499157.1:n.842+31602C>A
NR_046901.1:n.293-3684G>T

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