Canonical Allele Identifier: CA368237504
Gene: PON1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95308053C>A , CM000669.2:g.95308053C>A GRCh38
NC_000007.13:g.94937365C>A , CM000669.1:g.94937365C>A GRCh37
NC_000007.12:g.94775301C>A NCBI36
NG_008779.1:g.21520G>T
NG_008779.2:g.21654G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.656G>T MANE Select ENSP00000222381.3:p.Gly219Val
ENST00000222381.7:c.656G>T ENSP00000222381.3:p.Gly219Val
ENST00000433729.1:c.*381G>T ENSP00000407359.1:n.*381G>T
NM_000446.5:c.656G>T NP_000437.3:p.Gly219Val
NM_000446.6:c.656G>T NP_000437.3:p.Gly219Val
NM_000446.7:c.656G>T MANE Select NP_000437.3:p.Gly219Val