Canonical Allele Identifier: CA6927719

Gene: PDX1

Linked Data

• ClinVar Variation Id: 390803
• ClinVar RCV Id: RCV000761855 ; RCV002379376
• dbSNP Id: rs777512281
• ExAC: 13:28498718 C / G
• gnomAD v2: 13-28498718-C-G
• gnomAD v3: 13-27924581-C-G
• gnomAD v4: 13-27924581-C-G
• MyVariant Identifiers: chr13:g.28498718C>G (hg19) ; chr13:g.27924581C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924581C>G , CM000675.2:g.27924581C>G	GRCh38
NC_000013.10:g.28498718C>G , CM000675.1:g.28498718C>G	GRCh37
NC_000013.9:g.27396718C>G	NCBI36
NG_008183.1:g.9551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.732C>G MANE Select	ENSP00000370421.4:p.Pro244=
ENST00000381033.4:c.732C>G	ENSP00000370421.4:p.Pro244=
NM_000209.3:c.732C>G	NP_000200.1:p.Pro244=
NM_000209.4:c.732C>G MANE Select	NP_000200.1:p.Pro244=