Canonical Allele Identifier: CA368244176
Gene: PON1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324427A>C , CM000669.2:g.95324427A>C GRCh38
NC_000007.13:g.94953739A>C , CM000669.1:g.94953739A>C GRCh37
NC_000007.12:g.94791675A>C NCBI36
NG_008779.1:g.5146T>G
NG_008779.2:g.5280T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.49T>G MANE Select ENSP00000222381.3:p.Phe17Val
ENST00000222381.7:c.49T>G ENSP00000222381.3:p.Phe17Val
ENST00000433729.1:c.49T>G ENSP00000407359.1:p.Phe17Val
NM_000446.5:c.49T>G NP_000437.3:p.Phe17Val
NM_000446.6:c.49T>G NP_000437.3:p.Phe17Val
NM_000446.7:c.49T>G MANE Select NP_000437.3:p.Phe17Val