Canonical Allele Identifier: CA576336752
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1199377822
gnomAD v2: 7-94947953-G-T
gnomAD v3: 7-95318641-G-T
gnomAD v4: 7-95318641-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95318641G>T , CM000669.2:g.95318641G>T GRCh38
NC_000007.13:g.94947953G>T , CM000669.1:g.94947953G>T GRCh37
NC_000007.12:g.94785889G>T NCBI36
NG_008779.1:g.10932C>A
NG_008779.2:g.11066C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.75-248C>A MANE Select ENSP00000222381.3:n.75-248C>A
ENST00000222381.7:c.75-248C>A ENSP00000222381.3:n.75-248C>A
ENST00000433729.1:c.75-248C>A ENSP00000407359.1:n.75-248C>A
NM_000446.5:c.75-248C>A NP_000437.3:n.75-248C>A
NM_000446.6:c.75-248C>A NP_000437.3:n.75-248C>A
NM_000446.7:c.75-248C>A MANE Select NP_000437.3:n.75-248C>A