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: CA731824083

Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1441346473

gnomAD v3: 1-220836902-T-C

gnomAD v4: 1-220836902-T-C

MyVariant Identifiers: chr1:g.221010244T>C (hg19) chr1:g.220836902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836902T>C , CM000663.2:g.220836902T>C	GRCh38
NC_000001.10:g.221010244T>C , CM000663.1:g.221010244T>C	GRCh37
NC_000001.9:g.219076867T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651706.1:c.842+31628T>C	ENSP00000499157.1:n.842+31628T>C
NR_046901.1:n.293-3710A>G

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