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: CA375682216

Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs1261210591

gnomAD v3: 9-133255622-G-C

gnomAD v4: 9-133255622-G-C

MyVariant Identifiers: chr9:g.136131009G>C (hg19) chr9:g.133255622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255622G>C , CM000671.2:g.133255622G>C	GRCh38
NC_000009.11:g.136131009G>C , CM000671.1:g.136131009G>C	GRCh37
NC_000009.10:g.135120830G>C	NCBI36
NG_006669.1:g.22046C>G
NG_006669.2:g.24594C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1138C>G
ENST00000647353.1:n.54-4470C>G
ENST00000679909.1:c.28+19540C>G	ENSP00000506089.1:n.28+19540C>G
ENST00000453660.3:n.1120C>G
ENST00000538324.2:c.1102C>G	ENSP00000483018.1:p.Pro368Ala
ENST00000611156.4:c.*44C>G	ENSP00000483265.1:n.*44C>G
NM_020469.2:c.*44C>G	NP_065202.2:n.*44C>G
NM_020469.3:c.*44C>G	NP_065202.2:n.*44C>G

Search 100 bp 5'

Search 100 bp 3'