Canonical Allele Identifier: CA387646784

Gene: PDX1

Linked Data

• gnomAD v4: 13-27924649-C-G
• MyVariant Identifiers: chr13:g.28498786C>G (hg19) ; chr13:g.27924649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924649C>G , CM000675.2:g.27924649C>G	GRCh38
NC_000013.10:g.28498786C>G , CM000675.1:g.28498786C>G	GRCh37
NC_000013.9:g.27396786C>G	NCBI36
NG_008183.1:g.9619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.800C>G MANE Select	ENSP00000370421.4:p.Ala267Gly
ENST00000381033.4:c.800C>G	ENSP00000370421.4:p.Ala267Gly
NM_000209.3:c.800C>G	NP_000200.1:p.Ala267Gly
NM_000209.4:c.800C>G MANE Select	NP_000200.1:p.Ala267Gly