Canonical Allele Identifier: CA2683803391
Gene: PON1 HGNC NCBI

Linked Data

gnomAD v4: 7-95324285-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324285C>A , CM000669.2:g.95324285C>A GRCh38
NC_000007.13:g.94953597C>A , CM000669.1:g.94953597C>A GRCh37
NC_000007.12:g.94791533C>A NCBI36
NG_008779.1:g.5288G>T
NG_008779.2:g.5422G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.74+117G>T MANE Select ENSP00000222381.3:n.74+117G>T
ENST00000222381.7:c.74+117G>T ENSP00000222381.3:n.74+117G>T
ENST00000433729.1:c.74+117G>T ENSP00000407359.1:n.74+117G>T
NM_000446.5:c.74+117G>T NP_000437.3:n.74+117G>T
NM_000446.6:c.74+117G>T NP_000437.3:n.74+117G>T
NM_000446.7:c.74+117G>T MANE Select NP_000437.3:n.74+117G>T