Canonical Allele Identifier: CA387645299
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924280A>C , CM000675.2:g.27924280A>C GRCh38
NC_000013.10:g.28498417A>C , CM000675.1:g.28498417A>C GRCh37
NC_000013.9:g.27396417A>C NCBI36
NG_008183.1:g.9250A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.431A>C MANE Select ENSP00000370421.4:p.Glu144Ala
ENST00000381033.4:c.431A>C ENSP00000370421.4:p.Glu144Ala
NM_000209.3:c.431A>C NP_000200.1:p.Glu144Ala
XR_941578.1:n.3558A>C
XR_941579.1:n.2157A>C
XR_941580.1:n.1073A>C
XR_941578.2:n.3570A>C
XR_941580.2:n.1085A>C
NM_000209.4:c.431A>C MANE Select NP_000200.1:p.Glu144Ala