Canonical Allele Identifier: CA387643220
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

ClinVar Variation Id: 586037
ClinVar RCV Id: RCV000712004 RCV002493262 RCV003151139 RCV002463733
dbSNP Id: rs1380564366
gnomAD v2: 13-28494283-G-C
gnomAD v3: 13-27920146-G-C
gnomAD v4: 13-27920146-G-C
MyVariant Identifiers: chr13:g.28494283G>C (hg19) chr13:g.27920146G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920146G>C , CM000675.2:g.27920146G>C GRCh38
NC_000013.10:g.28494283G>C , CM000675.1:g.28494283G>C GRCh37
NC_000013.9:g.27392283G>C NCBI36
NG_008183.1:g.5116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.8G>C (PDX1) MANE Select ENSP00000370421.4:p.Gly3Ala
ENST00000381033.4:c.8G>C (PDX1) ENSP00000370421.4:p.Gly3Ala
NM_000209.3:c.8G>C (PDX1) NP_000200.1:p.Gly3Ala
NR_047484.1:n.241+1018C>G (PLUT)
XR_941578.1:n.153G>C (PDX1)
XR_941579.1:n.153G>C (PDX1)
XR_941580.1:n.153G>C (PDX1)
XR_941578.2:n.165G>C (PDX1)
XR_941580.2:n.165G>C (PDX1)
NM_000209.4:c.8G>C (PDX1) MANE Select NP_000200.1:p.Gly3Ala
Search 100 bp 5'
Search 100 bp 3'