Canonical Allele Identifier: CA387643811

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920226G>C , CM000675.2:g.27920226G>C GRCh38
NC_000013.10:g.28494363G>C , CM000675.1:g.28494363G>C GRCh37
NC_000013.9:g.27392363G>C NCBI36
NG_008183.1:g.5196G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.88G>C (PDX1) MANE Select ENSP00000370421.4:p.Ala30Pro
ENST00000381033.4:c.88G>C (PDX1) ENSP00000370421.4:p.Ala30Pro
NM_000209.3:c.88G>C (PDX1) NP_000200.1:p.Ala30Pro
NR_047484.1:n.241+938C>G (PLUT)
XR_941578.1:n.233G>C (PDX1)
XR_941579.1:n.233G>C (PDX1)
XR_941580.1:n.233G>C (PDX1)
XR_941578.2:n.245G>C (PDX1)
XR_941580.2:n.245G>C (PDX1)
NM_000209.4:c.88G>C (PDX1) MANE Select NP_000200.1:p.Ala30Pro