Canonical Allele Identifier: CA387645631
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924388C>T , CM000675.2:g.27924388C>T GRCh38
NC_000013.10:g.28498525C>T , CM000675.1:g.28498525C>T GRCh37
NC_000013.9:g.27396525C>T NCBI36
NG_008183.1:g.9358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.539C>T MANE Select ENSP00000370421.4:p.Ala180Val
ENST00000381033.4:c.539C>T ENSP00000370421.4:p.Ala180Val
NM_000209.3:c.539C>T NP_000200.1:p.Ala180Val
NM_000209.4:c.539C>T MANE Select NP_000200.1:p.Ala180Val