Canonical Allele Identifier: CA162910782
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs548562544
gnomAD v3: 7-95321441-T-G
gnomAD v4: 7-95321441-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95321441T>G , CM000669.2:g.95321441T>G GRCh38
NC_000007.13:g.94950753T>G , CM000669.1:g.94950753T>G GRCh37
NC_000007.12:g.94788689T>G NCBI36
NG_008779.1:g.8132A>C
NG_008779.2:g.8266A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.74+2961A>C MANE Select ENSP00000222381.3:n.74+2961A>C
ENST00000222381.7:c.74+2961A>C ENSP00000222381.3:n.74+2961A>C
ENST00000433729.1:c.74+2961A>C ENSP00000407359.1:n.74+2961A>C
NM_000446.5:c.74+2961A>C NP_000437.3:n.74+2961A>C
NM_000446.6:c.74+2961A>C NP_000437.3:n.74+2961A>C
NM_000446.7:c.74+2961A>C MANE Select NP_000437.3:n.74+2961A>C