Canonical Allele Identifier: CA387644575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920371C>A , CM000675.2:g.27920371C>A GRCh38
NC_000013.10:g.28494508C>A , CM000675.1:g.28494508C>A GRCh37
NC_000013.9:g.27392508C>A NCBI36
NG_008183.1:g.5341C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.233C>A (PDX1) MANE Select ENSP00000370421.4:p.Ala78Glu
ENST00000381033.4:c.233C>A (PDX1) ENSP00000370421.4:p.Ala78Glu
NM_000209.3:c.233C>A (PDX1) NP_000200.1:p.Ala78Glu
NR_047484.1:n.241+793G>T (PLUT)
XR_941578.1:n.378C>A (PDX1)
XR_941579.1:n.378C>A (PDX1)
XR_941580.1:n.378C>A (PDX1)
XR_941578.2:n.390C>A (PDX1)
XR_941580.2:n.390C>A (PDX1)
NM_000209.4:c.233C>A (PDX1) MANE Select NP_000200.1:p.Ala78Glu