Canonical Allele Identifier: CA387645607
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924384C>A , CM000675.2:g.27924384C>A GRCh38
NC_000013.10:g.28498521C>A , CM000675.1:g.28498521C>A GRCh37
NC_000013.9:g.27396521C>A NCBI36
NG_008183.1:g.9354C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.535C>A MANE Select ENSP00000370421.4:p.Leu179Met
ENST00000381033.4:c.535C>A ENSP00000370421.4:p.Leu179Met
NM_000209.3:c.535C>A NP_000200.1:p.Leu179Met
NM_000209.4:c.535C>A MANE Select NP_000200.1:p.Leu179Met