Canonical Allele Identifier: CA6927674
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1577228
ClinVar RCV Id: RCV002087882 RCV002337253 RCV002494156 RCV004553695
dbSNP Id: rs780117858
ExAC: 13:28498484 A / G
gnomAD v2: 13-28498484-A-G
gnomAD v3: 13-27924347-A-G
gnomAD v4: 13-27924347-A-G
MyVariant Identifiers: chr13:g.28498484A>G (hg19) chr13:g.27924347A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924347A>G , CM000675.2:g.27924347A>G GRCh38
NC_000013.10:g.28498484A>G , CM000675.1:g.28498484A>G GRCh37
NC_000013.9:g.27396484A>G NCBI36
NG_008183.1:g.9317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.498A>G MANE Select ENSP00000370421.4:p.Leu166=
ENST00000381033.4:c.498A>G ENSP00000370421.4:p.Leu166=
NM_000209.3:c.498A>G NP_000200.1:p.Leu166=
NM_000209.4:c.498A>G MANE Select NP_000200.1:p.Leu166=
Search 100 bp 5'
Search 100 bp 3'