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: CA773487870

Gene: MPO HGNC NCBI

Linked Data

dbSNP Id: rs1211229063

gnomAD v3: 17-58281231-C-T

gnomAD v4: 17-58281231-C-T

MyVariant Identifiers: chr17:g.56358592C>T (hg19) chr17:g.58281231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58281231C>T , CM000679.2:g.58281231C>T	GRCh38
NC_000017.10:g.56358592C>T , CM000679.1:g.56358592C>T	GRCh37
NC_000017.9:g.53713591C>T	NCBI36
NG_009629.1:g.4705G>A , LRG_84:g.4705G>A

Transcript Alleles

HGVS	Amino-acid change
XM_011524821.1:c.71-162G>A	XP_011523123.1:n.71-162G>A
XM_011524823.1:c.71-162G>A	XP_011523125.1:n.71-162G>A

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