Canonical Allele Identifier: CA387644531

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920364G>C , CM000675.2:g.27920364G>C GRCh38
NC_000013.10:g.28494501G>C , CM000675.1:g.28494501G>C GRCh37
NC_000013.9:g.27392501G>C NCBI36
NG_008183.1:g.5334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.226G>C (PDX1) MANE Select ENSP00000370421.4:p.Asp76His
ENST00000381033.4:c.226G>C (PDX1) ENSP00000370421.4:p.Asp76His
NM_000209.3:c.226G>C (PDX1) NP_000200.1:p.Asp76His
NR_047484.1:n.241+800C>G (PLUT)
XR_941578.1:n.371G>C (PDX1)
XR_941579.1:n.371G>C (PDX1)
XR_941580.1:n.371G>C (PDX1)
XR_941578.2:n.383G>C (PDX1)
XR_941580.2:n.383G>C (PDX1)
NM_000209.4:c.226G>C (PDX1) MANE Select NP_000200.1:p.Asp76His