Canonical Allele Identifier: CA4350449
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs763855506
gnomAD v2: 7-94953774-A-G
gnomAD v4: 7-95324462-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324462A>G , CM000669.2:g.95324462A>G GRCh38
NC_000007.13:g.94953774A>G , CM000669.1:g.94953774A>G GRCh37
NC_000007.12:g.94791710A>G NCBI36
NG_008779.1:g.5111T>C
NG_008779.2:g.5245T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.14T>C MANE Select ENSP00000222381.3:p.Ile5Thr
ENST00000222381.7:c.14T>C ENSP00000222381.3:p.Ile5Thr
ENST00000433729.1:c.14T>C ENSP00000407359.1:p.Ile5Thr
NM_000446.5:c.14T>C NP_000437.3:p.Ile5Thr
NM_000446.6:c.14T>C NP_000437.3:p.Ile5Thr
NM_000446.7:c.14T>C MANE Select NP_000437.3:p.Ile5Thr