Canonical Allele Identifier: CA387645542
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924370C>T , CM000675.2:g.27924370C>T GRCh38
NC_000013.10:g.28498507C>T , CM000675.1:g.28498507C>T GRCh37
NC_000013.9:g.27396507C>T NCBI36
NG_008183.1:g.9340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.521C>T MANE Select ENSP00000370421.4:p.Pro174Leu
ENST00000381033.4:c.521C>T ENSP00000370421.4:p.Pro174Leu
NM_000209.3:c.521C>T NP_000200.1:p.Pro174Leu
NM_000209.4:c.521C>T MANE Select NP_000200.1:p.Pro174Leu