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: CA985008613

Gene: MPO HGNC NCBI

Linked Data

gnomAD v3: 17-58281374-T-C

gnomAD v4: 17-58281374-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58281374T>C , CM000679.2:g.58281374T>C	GRCh38
NC_000017.10:g.56358735T>C , CM000679.1:g.56358735T>C	GRCh37
NC_000017.9:g.53713734T>C	NCBI36
NG_009629.1:g.4562A>G , LRG_84:g.4562A>G

Transcript Alleles

HGVS	Amino-acid change
XM_011524821.1:c.71-305A>G	XP_011523123.1:n.71-305A>G
XM_011524823.1:c.71-305A>G	XP_011523125.1:n.71-305A>G

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