Canonical Allele Identifier: CA231372

Gene: PDX1

Linked Data

• ClinVar Variation Id: 129881
• ClinVar RCV Id: RCV000117899 ; RCV000445403 ; RCV000515153 ; RCV000988972 ; RCV002250564 ; RCV002371951
• dbSNP Id: rs199644078
• ExAC: 13:28498702 C / A
• gnomAD v2: 13-28498702-C-A
• gnomAD v3: 13-27924565-C-A
• gnomAD v4: 13-27924565-C-A
• MyVariant Identifiers: chr13:g.28498702C>A (hg19) ; chr13:g.27924565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924565C>A , CM000675.2:g.27924565C>A	GRCh38
NC_000013.10:g.28498702C>A , CM000675.1:g.28498702C>A	GRCh37
NC_000013.9:g.27396702C>A	NCBI36
NG_008183.1:g.9535C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381033.5:c.716C>A MANE Select	ENSP00000370421.4:p.Pro239Gln
ENST00000381033.4:c.716C>A	ENSP00000370421.4:p.Pro239Gln
NM_000209.3:c.716C>A	NP_000200.1:p.Pro239Gln
NM_000209.4:c.716C>A MANE Select	NP_000200.1:p.Pro239Gln