Canonical Allele Identifier: CA6927581
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1415209
ClinVar RCV Id: RCV001932971 RCV002503590
dbSNP Id: rs767363575
ExAC: 13:28494373 C / A
gnomAD v2: 13-28494373-C-A
gnomAD v4: 13-27920236-C-A
COSMIC: COSM5970950
MyVariant Identifiers: chr13:g.28494373C>A (hg19) chr13:g.27920236C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920236C>A , CM000675.2:g.27920236C>A GRCh38
NC_000013.10:g.28494373C>A , CM000675.1:g.28494373C>A GRCh37
NC_000013.9:g.27392373C>A NCBI36
NG_008183.1:g.5206C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.98C>A (PDX1) MANE Select ENSP00000370421.4:p.Pro33His
ENST00000381033.4:c.98C>A (PDX1) ENSP00000370421.4:p.Pro33His
NM_000209.3:c.98C>A (PDX1) NP_000200.1:p.Pro33His
NR_047484.1:n.241+928G>T (PLUT)
XR_941578.1:n.243C>A (PDX1)
XR_941579.1:n.243C>A (PDX1)
XR_941580.1:n.243C>A (PDX1)
XR_941578.2:n.255C>A (PDX1)
XR_941580.2:n.255C>A (PDX1)
NM_000209.4:c.98C>A (PDX1) MANE Select NP_000200.1:p.Pro33His
Search 100 bp 5'
Search 100 bp 3'