Canonical Allele Identifier: CA387645293
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924276C>G , CM000675.2:g.27924276C>G GRCh38
NC_000013.10:g.28498413C>G , CM000675.1:g.28498413C>G GRCh37
NC_000013.9:g.27396413C>G NCBI36
NG_008183.1:g.9246C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.427C>G MANE Select ENSP00000370421.4:p.Pro143Ala
ENST00000381033.4:c.427C>G ENSP00000370421.4:p.Pro143Ala
NM_000209.3:c.427C>G NP_000200.1:p.Pro143Ala
XR_941578.1:n.3554C>G
XR_941579.1:n.2153C>G
XR_941580.1:n.1069C>G
XR_941578.2:n.3566C>G
XR_941580.2:n.1081C>G
NM_000209.4:c.427C>G MANE Select NP_000200.1:p.Pro143Ala