Canonical Allele Identifier: CA2683802462
Gene: PON1 HGNC NCBI

Linked Data

gnomAD v4: 7-95307953-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95307953T>G , CM000669.2:g.95307953T>G GRCh38
NC_000007.13:g.94937265T>G , CM000669.1:g.94937265T>G GRCh37
NC_000007.12:g.94775201T>G NCBI36
NG_008779.1:g.21620A>C
NG_008779.2:g.21754A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.698+58A>C MANE Select ENSP00000222381.3:n.698+58A>C
ENST00000222381.7:c.698+58A>C ENSP00000222381.3:n.698+58A>C
ENST00000433729.1:c.*423+58A>C ENSP00000407359.1:n.*423+58A>C
NM_000446.5:c.698+58A>C NP_000437.3:n.698+58A>C
NM_000446.6:c.698+58A>C NP_000437.3:n.698+58A>C
NM_000446.7:c.698+58A>C MANE Select NP_000437.3:n.698+58A>C
Search 100 bp 5'
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