Canonical Allele Identifier: CA387644585

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920373G>C , CM000675.2:g.27920373G>C GRCh38
NC_000013.10:g.28494510G>C , CM000675.1:g.28494510G>C GRCh37
NC_000013.9:g.27392510G>C NCBI36
NG_008183.1:g.5343G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.235G>C (PDX1) MANE Select ENSP00000370421.4:p.Val79Leu
ENST00000381033.4:c.235G>C (PDX1) ENSP00000370421.4:p.Val79Leu
NM_000209.3:c.235G>C (PDX1) NP_000200.1:p.Val79Leu
NR_047484.1:n.241+791C>G (PLUT)
XR_941578.1:n.380G>C (PDX1)
XR_941579.1:n.380G>C (PDX1)
XR_941580.1:n.380G>C (PDX1)
XR_941578.2:n.392G>C (PDX1)
XR_941580.2:n.392G>C (PDX1)
NM_000209.4:c.235G>C (PDX1) MANE Select NP_000200.1:p.Val79Leu