Canonical Allele Identifier: CA231372
Community Standard Title: NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
Gene: PDX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924565C>A , CM000675.2:g.27924565C>A GRCh38
NC_000013.10:g.28498702C>A , CM000675.1:g.28498702C>A GRCh37
NC_000013.9:g.27396702C>A NCBI36
NG_008183.1:g.9535C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000209.4:c.716C>A MANE Select NP_000200.1:p.Pro239Gln
ENST00000381033.5:c.716C>A MANE Select ENSP00000370421.4:p.Pro239Gln
NM_000209.3:c.716C>A NP_000200.1:p.Pro239Gln
ENST00000381033.4:c.716C>A ENSP00000370421.4:p.Pro239Gln
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