Canonical Allele Identifier: CA697009604
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1331486532
gnomAD v3: 13-27924712-C-A
gnomAD v4: 13-27924712-C-A
MyVariant Identifiers: chr13:g.28498849C>A (hg19) chr13:g.27924712C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924712C>A , CM000675.2:g.27924712C>A GRCh38
NC_000013.10:g.28498849C>A , CM000675.1:g.28498849C>A GRCh37
NC_000013.9:g.27396849C>A NCBI36
NG_008183.1:g.9682C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*11C>A MANE Select ENSP00000370421.4:n.*11C>A
ENST00000381033.4:c.*11C>A ENSP00000370421.4:n.*11C>A
NM_000209.3:c.*11C>A NP_000200.1:n.*11C>A
NM_000209.4:c.*11C>A MANE Select NP_000200.1:n.*11C>A
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