Canonical Allele Identifier: CA162912808
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs187631313
gnomAD v2: 7-94953593-G-A
gnomAD v3: 7-95324281-G-A
gnomAD v4: 7-95324281-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324281G>A , CM000669.2:g.95324281G>A GRCh38
NC_000007.13:g.94953593G>A , CM000669.1:g.94953593G>A GRCh37
NC_000007.12:g.94791529G>A NCBI36
NG_008779.1:g.5292C>T
NG_008779.2:g.5426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.74+121C>T MANE Select ENSP00000222381.3:n.74+121C>T
ENST00000222381.7:c.74+121C>T ENSP00000222381.3:n.74+121C>T
ENST00000433729.1:c.74+121C>T ENSP00000407359.1:n.74+121C>T
NM_000446.5:c.74+121C>T NP_000437.3:n.74+121C>T
NM_000446.6:c.74+121C>T NP_000437.3:n.74+121C>T
NM_000446.7:c.74+121C>T MANE Select NP_000437.3:n.74+121C>T