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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2683802914
Gene: PON1
HGNC
NCBI
Linked Data
gnomAD v4:
7-95316698-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95316698G>T , CM000669.2:g.95316698G>T
GRCh38
NC_000007.13:g.94946010G>T , CM000669.1:g.94946010G>T
GRCh37
NC_000007.12:g.94783946G>T
NCBI36
NG_008779.1:g.12875C>A
NG_008779.2:g.13009C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000222381.8:c.201+36C>A
MANE Select
ENSP00000222381.3:n.201+36C>A
ENST00000222381.7:c.201+36C>A
ENSP00000222381.3:n.201+36C>A
ENST00000433729.1:c.201+36C>A
ENSP00000407359.1:n.201+36C>A
ENST00000470502.1:n.321+36C>A
NM_000446.5:c.201+36C>A
NP_000437.3:n.201+36C>A
NM_000446.6:c.201+36C>A
NP_000437.3:n.201+36C>A
NM_000446.7:c.201+36C>A
MANE Select
NP_000437.3:n.201+36C>A
Search 100 bp 5'
Search 100 bp 3'