Canonical Allele Identifier: CA483175597
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

dbSNP Id: rs1266941220
gnomAD v2: 13-28494371-C-G
gnomAD v4: 13-27920234-C-G
MyVariant Identifiers: chr13:g.28494371C>G (hg19) chr13:g.27920234C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920234C>G , CM000675.2:g.27920234C>G GRCh38
NC_000013.10:g.28494371C>G , CM000675.1:g.28494371C>G GRCh37
NC_000013.9:g.27392371C>G NCBI36
NG_008183.1:g.5204C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.96C>G (PDX1) MANE Select ENSP00000370421.4:p.Pro32=
ENST00000381033.4:c.96C>G (PDX1) ENSP00000370421.4:p.Pro32=
NM_000209.3:c.96C>G (PDX1) NP_000200.1:p.Pro32=
NR_047484.1:n.241+930G>C (PLUT)
XR_941578.1:n.241C>G (PDX1)
XR_941579.1:n.241C>G (PDX1)
XR_941580.1:n.241C>G (PDX1)
XR_941578.2:n.253C>G (PDX1)
XR_941580.2:n.253C>G (PDX1)
NM_000209.4:c.96C>G (PDX1) MANE Select NP_000200.1:p.Pro32=
Search 100 bp 5'
Search 100 bp 3'