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: CA718605683

Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1365664780

gnomAD v3: 16-176657-C-A

gnomAD v4: 16-176657-C-A

MyVariant Identifiers: chr16:g.226656C>A (hg19) chr16:g.176657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176657C>A , CM000678.2:g.176657C>A	GRCh38
NC_000016.9:g.226656C>A , CM000678.1:g.226656C>A	GRCh37
NC_000016.8:g.166656C>A	NCBI36
NG_000006.1:g.37520C>A
NG_059186.1:g.5007C>A

Transcript Alleles

HGVS	Amino-acid change
NM_000558.4:c.-60C>A	NP_000549.1:n.-60C>A

Search 100 bp 5'

Search 100 bp 3'