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: CA731824067

Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1349285181

gnomAD v3: 1-220836869-C-T

gnomAD v4: 1-220836869-C-T

MyVariant Identifiers: chr1:g.221010211C>T (hg19) chr1:g.220836869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836869C>T , CM000663.2:g.220836869C>T	GRCh38
NC_000001.10:g.221010211C>T , CM000663.1:g.221010211C>T	GRCh37
NC_000001.9:g.219076834C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651706.1:c.842+31595C>T	ENSP00000499157.1:n.842+31595C>T
NR_046901.1:n.293-3677G>A

Search 100 bp 5'

Search 100 bp 3'