Canonical Allele Identifier: CA6927586
Community Standard Title: NM_000209.4(PDX1):c.164G>A (p.Gly55Asp)
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920302G>A , CM000675.2:g.27920302G>A GRCh38
NC_000013.10:g.28494439G>A , CM000675.1:g.28494439G>A GRCh37
NC_000013.9:g.27392439G>A NCBI36
NG_008183.1:g.5272G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000209.4:c.164G>A (PDX1) MANE Select NP_000200.1:p.Gly55Asp
ENST00000381033.5:c.164G>A (PDX1) MANE Select ENSP00000370421.4:p.Gly55Asp
NM_000209.3:c.164G>A (PDX1) NP_000200.1:p.Gly55Asp
NR_047484.1:n.241+862C>T (PLUT)
ENST00000381033.4:c.164G>A (PDX1) ENSP00000370421.4:p.Gly55Asp
XR_941578.1:n.309G>A (PDX1)
XR_941578.2:n.321G>A (PDX1)
XR_941579.1:n.309G>A (PDX1)
XR_941580.1:n.309G>A (PDX1)
XR_941580.2:n.321G>A (PDX1)
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