Canonical Allele Identifier: CA387645297

Gene: PDX1

Linked Data

• MyVariant Identifiers: chr13:g.28498416G>A (hg19) ; chr13:g.27924279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924279G>A , CM000675.2:g.27924279G>A	GRCh38
NC_000013.10:g.28498416G>A , CM000675.1:g.28498416G>A	GRCh37
NC_000013.9:g.27396416G>A	NCBI36
NG_008183.1:g.9249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.430G>A MANE Select	ENSP00000370421.4:p.Glu144Lys
ENST00000381033.4:c.430G>A	ENSP00000370421.4:p.Glu144Lys
NM_000209.3:c.430G>A	NP_000200.1:p.Glu144Lys
XR_941578.1:n.3557G>A
XR_941579.1:n.2156G>A
XR_941580.1:n.1072G>A
XR_941578.2:n.3569G>A
XR_941580.2:n.1084G>A
NM_000209.4:c.430G>A MANE Select	NP_000200.1:p.Glu144Lys