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: CA292020599

Gene: MPO HGNC NCBI

Linked Data

dbSNP Id: rs560565571

gnomAD v2: 17-56358716-A-G

gnomAD v3: 17-58281355-A-G

gnomAD v4: 17-58281355-A-G

MyVariant Identifiers: chr17:g.56358716A>G (hg19) chr17:g.58281355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58281355A>G , CM000679.2:g.58281355A>G	GRCh38
NC_000017.10:g.56358716A>G , CM000679.1:g.56358716A>G	GRCh37
NC_000017.9:g.53713715A>G	NCBI36
NG_009629.1:g.4581T>C , LRG_84:g.4581T>C

Transcript Alleles

HGVS	Amino-acid change
XM_011524821.1:c.71-286T>C	XP_011523123.1:n.71-286T>C
XM_011524823.1:c.71-286T>C	XP_011523125.1:n.71-286T>C

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