Canonical Allele Identifier: CA368244238
Gene: PON1 HGNC NCBI

Linked Data

gnomAD v4: 7-95324457-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324457G>A , CM000669.2:g.95324457G>A GRCh38
NC_000007.13:g.94953769G>A , CM000669.1:g.94953769G>A GRCh37
NC_000007.12:g.94791705G>A NCBI36
NG_008779.1:g.5116C>T
NG_008779.2:g.5250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.19C>T MANE Select ENSP00000222381.3:p.Leu7Phe
ENST00000222381.7:c.19C>T ENSP00000222381.3:p.Leu7Phe
ENST00000433729.1:c.19C>T ENSP00000407359.1:p.Leu7Phe
NM_000446.5:c.19C>T NP_000437.3:p.Leu7Phe
NM_000446.6:c.19C>T NP_000437.3:p.Leu7Phe
NM_000446.7:c.19C>T MANE Select NP_000437.3:p.Leu7Phe