Canonical Allele Identifier: CA387646821
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924659G>C , CM000675.2:g.27924659G>C GRCh38
NC_000013.10:g.28498796G>C , CM000675.1:g.28498796G>C GRCh37
NC_000013.9:g.27396796G>C NCBI36
NG_008183.1:g.9629G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.810G>C MANE Select ENSP00000370421.4:p.Gln270His
ENST00000381033.4:c.810G>C ENSP00000370421.4:p.Gln270His
NM_000209.3:c.810G>C NP_000200.1:p.Gln270His
NM_000209.4:c.810G>C MANE Select NP_000200.1:p.Gln270His