Canonical Allele Identifier: CA387643833
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2171868
ClinVar RCV Id: RCV003090408
dbSNP Id: rs1449072088
gnomAD v2: 13-28494367-G-A
gnomAD v4: 13-27920230-G-A
MyVariant Identifiers: chr13:g.28494367G>A (hg19) chr13:g.27920230G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920230G>A , CM000675.2:g.27920230G>A GRCh38
NC_000013.10:g.28494367G>A , CM000675.1:g.28494367G>A GRCh37
NC_000013.9:g.27392367G>A NCBI36
NG_008183.1:g.5200G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.92G>A (PDX1) MANE Select ENSP00000370421.4:p.Ser31Asn
ENST00000381033.4:c.92G>A (PDX1) ENSP00000370421.4:p.Ser31Asn
NM_000209.3:c.92G>A (PDX1) NP_000200.1:p.Ser31Asn
NR_047484.1:n.241+934C>T (PLUT)
XR_941578.1:n.237G>A (PDX1)
XR_941579.1:n.237G>A (PDX1)
XR_941580.1:n.237G>A (PDX1)
XR_941578.2:n.249G>A (PDX1)
XR_941580.2:n.249G>A (PDX1)
NM_000209.4:c.92G>A (PDX1) MANE Select NP_000200.1:p.Ser31Asn
Search 100 bp 5'
Search 100 bp 3'