Canonical Allele Identifier: CA844093817
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1362974549
gnomAD v3: 7-95321515-C-T
gnomAD v4: 7-95321515-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95321515C>T , CM000669.2:g.95321515C>T GRCh38
NC_000007.13:g.94950827C>T , CM000669.1:g.94950827C>T GRCh37
NC_000007.12:g.94788763C>T NCBI36
NG_008779.1:g.8058G>A
NG_008779.2:g.8192G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.74+2887G>A MANE Select ENSP00000222381.3:n.74+2887G>A
ENST00000222381.7:c.74+2887G>A ENSP00000222381.3:n.74+2887G>A
ENST00000433729.1:c.74+2887G>A ENSP00000407359.1:n.74+2887G>A
NM_000446.5:c.74+2887G>A NP_000437.3:n.74+2887G>A
NM_000446.6:c.74+2887G>A NP_000437.3:n.74+2887G>A
NM_000446.7:c.74+2887G>A MANE Select NP_000437.3:n.74+2887G>A