Canonical Allele Identifier: CA576336993
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1410965498
gnomAD v2: 7-94950702-A-G
gnomAD v3: 7-95321390-A-G
gnomAD v4: 7-95321390-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95321390A>G , CM000669.2:g.95321390A>G GRCh38
NC_000007.13:g.94950702A>G , CM000669.1:g.94950702A>G GRCh37
NC_000007.12:g.94788638A>G NCBI36
NG_008779.1:g.8183T>C
NG_008779.2:g.8317T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.75-2997T>C MANE Select ENSP00000222381.3:n.75-2997T>C
ENST00000222381.7:c.75-2997T>C ENSP00000222381.3:n.75-2997T>C
ENST00000433729.1:c.75-2997T>C ENSP00000407359.1:n.75-2997T>C
NM_000446.5:c.75-2997T>C NP_000437.3:n.75-2997T>C
NM_000446.6:c.75-2997T>C NP_000437.3:n.75-2997T>C
NM_000446.7:c.75-2997T>C MANE Select NP_000437.3:n.75-2997T>C