Canonical Allele Identifier: CA387645281
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1324292313

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924271C>A , CM000675.2:g.27924271C>A GRCh38
NC_000013.10:g.28498408C>A , CM000675.1:g.28498408C>A GRCh37
NC_000013.9:g.27396408C>A NCBI36
NG_008183.1:g.9241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.422C>A MANE Select ENSP00000370421.4:p.Ala141Glu
ENST00000381033.4:c.422C>A ENSP00000370421.4:p.Ala141Glu
NM_000209.3:c.422C>A NP_000200.1:p.Ala141Glu
XR_941578.1:n.3549C>A
XR_941579.1:n.2148C>A
XR_941580.1:n.1064C>A
XR_941578.2:n.3561C>A
XR_941580.2:n.1076C>A
NM_000209.4:c.422C>A MANE Select NP_000200.1:p.Ala141Glu