Canonical Allele Identifier: CA483175600
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

ClinVar Variation Id: 755324
ClinVar RCV Id: RCV000932738
dbSNP Id: rs925409013
gnomAD v2: 13-28494374-T-C
gnomAD v4: 13-27920237-T-C
MyVariant Identifiers: chr13:g.28494374T>C (hg19) chr13:g.27920237T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920237T>C , CM000675.2:g.27920237T>C GRCh38
NC_000013.10:g.28494374T>C , CM000675.1:g.28494374T>C GRCh37
NC_000013.9:g.27392374T>C NCBI36
NG_008183.1:g.5207T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.99T>C (PDX1) MANE Select ENSP00000370421.4:p.Pro33=
ENST00000381033.4:c.99T>C (PDX1) ENSP00000370421.4:p.Pro33=
NM_000209.3:c.99T>C (PDX1) NP_000200.1:p.Pro33=
NR_047484.1:n.241+927A>G (PLUT)
XR_941578.1:n.244T>C (PDX1)
XR_941579.1:n.244T>C (PDX1)
XR_941580.1:n.244T>C (PDX1)
XR_941578.2:n.256T>C (PDX1)
XR_941580.2:n.256T>C (PDX1)
NM_000209.4:c.99T>C (PDX1) MANE Select NP_000200.1:p.Pro33=
Search 100 bp 5'
Search 100 bp 3'