Canonical Allele Identifier: CA368244246
Gene: PON1 HGNC NCBI

Linked Data

gnomAD v4: 7-95324460-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324460C>T , CM000669.2:g.95324460C>T GRCh38
NC_000007.13:g.94953772C>T , CM000669.1:g.94953772C>T GRCh37
NC_000007.12:g.94791708C>T NCBI36
NG_008779.1:g.5113G>A
NG_008779.2:g.5247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.16G>A MANE Select ENSP00000222381.3:p.Ala6Thr
ENST00000222381.7:c.16G>A ENSP00000222381.3:p.Ala6Thr
ENST00000433729.1:c.16G>A ENSP00000407359.1:p.Ala6Thr
NM_000446.5:c.16G>A NP_000437.3:p.Ala6Thr
NM_000446.6:c.16G>A NP_000437.3:p.Ala6Thr
NM_000446.7:c.16G>A MANE Select NP_000437.3:p.Ala6Thr