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: CA529064260

Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1257558378

gnomAD v2: 1-221010233-C-T

MyVariant Identifiers: chr1:g.221010233C>T (hg19) chr1:g.220836891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836891C>T , CM000663.2:g.220836891C>T	GRCh38
NC_000001.10:g.221010233C>T , CM000663.1:g.221010233C>T	GRCh37
NC_000001.9:g.219076856C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651706.1:c.842+31617C>T	ENSP00000499157.1:n.842+31617C>T
NR_046901.1:n.293-3699G>A

Search 100 bp 5'

Search 100 bp 3'