Canonical Allele Identifier: CA387646576
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924597C>A , CM000675.2:g.27924597C>A GRCh38
NC_000013.10:g.28498734C>A , CM000675.1:g.28498734C>A GRCh37
NC_000013.9:g.27396734C>A NCBI36
NG_008183.1:g.9567C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.748C>A MANE Select ENSP00000370421.4:p.Pro250Thr
ENST00000381033.4:c.748C>A ENSP00000370421.4:p.Pro250Thr
NM_000209.3:c.748C>A NP_000200.1:p.Pro250Thr
NM_000209.4:c.748C>A MANE Select NP_000200.1:p.Pro250Thr