Canonical Allele Identifier: CA387645508

Gene: PDX1

Linked Data

• MyVariant Identifiers: chr13:g.28498498T>A (hg19) ; chr13:g.27924361T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924361T>A , CM000675.2:g.27924361T>A	GRCh38
NC_000013.10:g.28498498T>A , CM000675.1:g.28498498T>A	GRCh37
NC_000013.9:g.27396498T>A	NCBI36
NG_008183.1:g.9331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.512T>A MANE Select	ENSP00000370421.4:p.Ile171Asn
ENST00000381033.4:c.512T>A	ENSP00000370421.4:p.Ile171Asn
NM_000209.3:c.512T>A	NP_000200.1:p.Ile171Asn
NM_000209.4:c.512T>A MANE Select	NP_000200.1:p.Ile171Asn