Canonical Allele Identifier: CA368237523
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1210075881
gnomAD v2: 7-94937369-C-G
gnomAD v4: 7-95308057-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95308057C>G , CM000669.2:g.95308057C>G GRCh38
NC_000007.13:g.94937369C>G , CM000669.1:g.94937369C>G GRCh37
NC_000007.12:g.94775305C>G NCBI36
NG_008779.1:g.21516G>C
NG_008779.2:g.21650G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.652G>C MANE Select ENSP00000222381.3:p.Glu218Gln
ENST00000222381.7:c.652G>C ENSP00000222381.3:p.Glu218Gln
ENST00000433729.1:c.*377G>C ENSP00000407359.1:n.*377G>C
NM_000446.5:c.652G>C NP_000437.3:p.Glu218Gln
NM_000446.6:c.652G>C NP_000437.3:p.Glu218Gln
NM_000446.7:c.652G>C MANE Select NP_000437.3:p.Glu218Gln