Canonical Allele Identifier: CA387646382

Gene: PDX1

Linked Data

• ClinVar Variation Id: 1304109
• ClinVar RCV Id: RCV001751876 ; RCV001825020
• dbSNP Id: rs777164146
• gnomAD v2: 13-28498667-C-A
• gnomAD v4: 13-27924530-C-A
• MyVariant Identifiers: chr13:g.28498667C>A (hg19) ; chr13:g.28498667_28498684delinsAGCCGTGACCTCCGGCGA (hg19) ; chr13:g.27924530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924530C>A , CM000675.2:g.27924530C>A	GRCh38
NC_000013.10:g.28498667C>A , CM000675.1:g.28498667C>A	GRCh37
NC_000013.9:g.27396667C>A	NCBI36
NG_008183.1:g.9500C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.681C>A MANE Select	ENSP00000370421.4:p.Cys227Ter
ENST00000381033.4:c.681C>A	ENSP00000370421.4:p.Cys227Ter
NM_000209.3:c.681C>A	NP_000200.1:p.Cys227Ter
NM_000209.4:c.681C>A MANE Select	NP_000200.1:p.Cys227Ter