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: CA844095741

Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1237732763

gnomAD v3: 7-95324555-G-A

gnomAD v4: 7-95324555-G-A

MyVariant Identifiers: chr7:g.94953867G>A (hg19) chr7:g.95324555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.95324555G>A , CM000669.2:g.95324555G>A	GRCh38
NC_000007.13:g.94953867G>A , CM000669.1:g.94953867G>A	GRCh37
NC_000007.12:g.94791803G>A	NCBI36
NG_008779.1:g.5018C>T
NG_008779.2:g.5152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222381.7:c.-80C>T	ENSP00000222381.3:n.-80C>T
NM_000446.5:c.-80C>T	NP_000437.3:n.-80C>T
NM_000446.6:c.-80C>T	NP_000437.3:n.-80C>T

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