Canonical Allele Identifier: CA4350434
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs757063246
ExAC: 7:94953720 G / A
MyVariant Identifiers: chr7:g.94953720G>A (hg19) chr7:g.95324408G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324408G>A , CM000669.2:g.95324408G>A GRCh38
NC_000007.13:g.94953720G>A , CM000669.1:g.94953720G>A GRCh37
NC_000007.12:g.94791656G>A NCBI36
NG_008779.1:g.5165C>T
NG_008779.2:g.5299C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.68C>T MANE Select ENSP00000222381.3:p.Ser23Phe
ENST00000222381.7:c.68C>T ENSP00000222381.3:p.Ser23Phe
ENST00000433729.1:c.68C>T ENSP00000407359.1:p.Ser23Phe
NM_000446.5:c.68C>T NP_000437.3:p.Ser23Phe
NM_000446.6:c.68C>T NP_000437.3:p.Ser23Phe
NM_000446.7:c.68C>T MANE Select NP_000437.3:p.Ser23Phe
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