Canonical Allele Identifier: CA387645323
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924289A>C , CM000675.2:g.27924289A>C GRCh38
NC_000013.10:g.28498426A>C , CM000675.1:g.28498426A>C GRCh37
NC_000013.9:g.27396426A>C NCBI36
NG_008183.1:g.9259A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.440A>C MANE Select ENSP00000370421.4:p.Lys147Thr
ENST00000381033.4:c.440A>C ENSP00000370421.4:p.Lys147Thr
NM_000209.3:c.440A>C NP_000200.1:p.Lys147Thr
XR_941578.1:n.3567A>C
XR_941579.1:n.2166A>C
XR_941580.1:n.1082A>C
XR_941578.2:n.3579A>C
XR_941580.2:n.1094A>C
NM_000209.4:c.440A>C MANE Select NP_000200.1:p.Lys147Thr