Canonical Allele Identifier: CA387646918

Gene: PDX1

Linked Data

• gnomAD v4: 13-27924684-C-A
• MyVariant Identifiers: chr13:g.28498821C>A (hg19) ; chr13:g.27924684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924684C>A , CM000675.2:g.27924684C>A	GRCh38
NC_000013.10:g.28498821C>A , CM000675.1:g.28498821C>A	GRCh37
NC_000013.9:g.27396821C>A	NCBI36
NG_008183.1:g.9654C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.835C>A MANE Select	ENSP00000370421.4:p.Pro279Thr
ENST00000381033.4:c.835C>A	ENSP00000370421.4:p.Pro279Thr
NM_000209.3:c.835C>A	NP_000200.1:p.Pro279Thr
NM_000209.4:c.835C>A MANE Select	NP_000200.1:p.Pro279Thr