Canonical Allele Identifier: CA387643928
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

dbSNP Id: rs1474628031
gnomAD v2: 13-28494402-C-G
gnomAD v4: 13-27920265-C-G
MyVariant Identifiers: chr13:g.28494402C>G (hg19) chr13:g.27920265C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920265C>G , CM000675.2:g.27920265C>G GRCh38
NC_000013.10:g.28494402C>G , CM000675.1:g.28494402C>G GRCh37
NC_000013.9:g.27392402C>G NCBI36
NG_008183.1:g.5235C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.127C>G (PDX1) MANE Select ENSP00000370421.4:p.Pro43Ala
ENST00000381033.4:c.127C>G (PDX1) ENSP00000370421.4:p.Pro43Ala
NM_000209.3:c.127C>G (PDX1) NP_000200.1:p.Pro43Ala
NR_047484.1:n.241+899G>C (PLUT)
XR_941578.1:n.272C>G (PDX1)
XR_941579.1:n.272C>G (PDX1)
XR_941580.1:n.272C>G (PDX1)
XR_941578.2:n.284C>G (PDX1)
XR_941580.2:n.284C>G (PDX1)
NM_000209.4:c.127C>G (PDX1) MANE Select NP_000200.1:p.Pro43Ala
Search 100 bp 5'
Search 100 bp 3'