Canonical Allele Identifier: CA368237515
Gene: PON1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95308056T>G , CM000669.2:g.95308056T>G GRCh38
NC_000007.13:g.94937368T>G , CM000669.1:g.94937368T>G GRCh37
NC_000007.12:g.94775304T>G NCBI36
NG_008779.1:g.21517A>C
NG_008779.2:g.21651A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.653A>C MANE Select ENSP00000222381.3:p.Glu218Ala
ENST00000222381.7:c.653A>C ENSP00000222381.3:p.Glu218Ala
ENST00000433729.1:c.*378A>C ENSP00000407359.1:n.*378A>C
NM_000446.5:c.653A>C NP_000437.3:p.Glu218Ala
NM_000446.6:c.653A>C NP_000437.3:p.Glu218Ala
NM_000446.7:c.653A>C MANE Select NP_000437.3:p.Glu218Ala