Canonical Allele Identifier: CA6927673

Gene: PDX1

Linked Data

• ClinVar Variation Id: 1336834
• ClinVar RCV Id: RCV001819320
• dbSNP Id: rs754210302
• ExAC: 13:28498475 G / A
• gnomAD v2: 13-28498475-G-A
• gnomAD v4: 13-27924338-G-A
• MyVariant Identifiers: chr13:g.28498475G>A (hg19) ; chr13:g.27924338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924338G>A , CM000675.2:g.27924338G>A	GRCh38
NC_000013.10:g.28498475G>A , CM000675.1:g.28498475G>A	GRCh37
NC_000013.9:g.27396475G>A	NCBI36
NG_008183.1:g.9308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.489G>A MANE Select	ENSP00000370421.4:p.Lys163=
ENST00000381033.4:c.489G>A	ENSP00000370421.4:p.Lys163=
NM_000209.3:c.489G>A	NP_000200.1:p.Lys163=
NM_000209.4:c.489G>A MANE Select	NP_000200.1:p.Lys163=