Canonical Allele Identifier: CA387645264

Gene: PDX1

Linked Data

• MyVariant Identifiers: chr13:g.28498399C>A (hg19) ; chr13:g.27924262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924262C>A , CM000675.2:g.27924262C>A	GRCh38
NC_000013.10:g.28498399C>A , CM000675.1:g.28498399C>A	GRCh37
NC_000013.9:g.27396399C>A	NCBI36
NG_008183.1:g.9232C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.413C>A MANE Select	ENSP00000370421.4:p.Ala138Asp
ENST00000381033.4:c.413C>A	ENSP00000370421.4:p.Ala138Asp
NM_000209.3:c.413C>A	NP_000200.1:p.Ala138Asp
XR_941578.1:n.3540C>A
XR_941579.1:n.2139C>A
XR_941580.1:n.1055C>A
XR_941578.2:n.3552C>A
XR_941580.2:n.1067C>A
NM_000209.4:c.413C>A MANE Select	NP_000200.1:p.Ala138Asp