Canonical Allele Identifier: CA387645325

Gene: PDX1

Linked Data

• MyVariant Identifiers: chr13:g.28498426A>T (hg19) ; chr13:g.27924289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924289A>T , CM000675.2:g.27924289A>T	GRCh38
NC_000013.10:g.28498426A>T , CM000675.1:g.28498426A>T	GRCh37
NC_000013.9:g.27396426A>T	NCBI36
NG_008183.1:g.9259A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.440A>T MANE Select	ENSP00000370421.4:p.Lys147Met
ENST00000381033.4:c.440A>T	ENSP00000370421.4:p.Lys147Met
NM_000209.3:c.440A>T	NP_000200.1:p.Lys147Met
XR_941578.1:n.3567A>T
XR_941579.1:n.2166A>T
XR_941580.1:n.1082A>T
XR_941578.2:n.3579A>T
XR_941580.2:n.1094A>T
NM_000209.4:c.440A>T MANE Select	NP_000200.1:p.Lys147Met