Canonical Allele Identifier: CA4350441
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs201783178
gnomAD v2: 7-94953736-T-G
gnomAD v4: 7-95324424-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324424T>G , CM000669.2:g.95324424T>G GRCh38
NC_000007.13:g.94953736T>G , CM000669.1:g.94953736T>G GRCh37
NC_000007.12:g.94791672T>G NCBI36
NG_008779.1:g.5149A>C
NG_008779.2:g.5283A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.52A>C MANE Select ENSP00000222381.3:p.Arg18=
ENST00000222381.7:c.52A>C ENSP00000222381.3:p.Arg18=
ENST00000433729.1:c.52A>C ENSP00000407359.1:p.Arg18=
NM_000446.5:c.52A>C NP_000437.3:p.Arg18=
NM_000446.6:c.52A>C NP_000437.3:p.Arg18=
NM_000446.7:c.52A>C MANE Select NP_000437.3:p.Arg18=