Canonical Allele Identifier: CA387645393
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924325T>A , CM000675.2:g.27924325T>A GRCh38
NC_000013.10:g.28498462T>A , CM000675.1:g.28498462T>A GRCh37
NC_000013.9:g.27396462T>A NCBI36
NG_008183.1:g.9295T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.476T>A MANE Select ENSP00000370421.4:p.Leu159Gln
ENST00000381033.4:c.476T>A ENSP00000370421.4:p.Leu159Gln
NM_000209.3:c.476T>A NP_000200.1:p.Leu159Gln
XR_941580.1:n.1118T>A
XR_941580.2:n.1130T>A
NM_000209.4:c.476T>A MANE Select NP_000200.1:p.Leu159Gln