Canonical Allele Identifier: CA387644529
Community Standard Title: NM_000209.4(PDX1):c.226G>T (p.Asp76Tyr)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000209.4:c.226G>T (PDX1) MANE Select NP_000200.1:p.Asp76Tyr
ENST00000381033.5:c.226G>T (PDX1) MANE Select ENSP00000370421.4:p.Asp76Tyr
NM_000209.3:c.226G>T (PDX1) NP_000200.1:p.Asp76Tyr
NR_047484.1:n.241+800C>A (PLUT)
ENST00000381033.4:c.226G>T (PDX1) ENSP00000370421.4:p.Asp76Tyr
XR_941578.1:n.371G>T (PDX1)
XR_941578.2:n.383G>T (PDX1)
XR_941579.1:n.371G>T (PDX1)
XR_941580.1:n.371G>T (PDX1)
XR_941580.2:n.383G>T (PDX1)