Canonical Allele Identifier: CA1104655088
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1457599617
gnomAD v3: 7-95316680-C-A
gnomAD v4: 7-95316680-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95316680C>A , CM000669.2:g.95316680C>A GRCh38
NC_000007.13:g.94945992C>A , CM000669.1:g.94945992C>A GRCh37
NC_000007.12:g.94783928C>A NCBI36
NG_008779.1:g.12893G>T
NG_008779.2:g.13027G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.201+54G>T MANE Select ENSP00000222381.3:n.201+54G>T
ENST00000222381.7:c.201+54G>T ENSP00000222381.3:n.201+54G>T
ENST00000433729.1:c.201+54G>T ENSP00000407359.1:n.201+54G>T
ENST00000470502.1:n.321+54G>T
NM_000446.5:c.201+54G>T NP_000437.3:n.201+54G>T
NM_000446.6:c.201+54G>T NP_000437.3:n.201+54G>T
NM_000446.7:c.201+54G>T MANE Select NP_000437.3:n.201+54G>T