Canonical Allele Identifier: CA387643844
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

dbSNP Id: rs1957772368
gnomAD v3: 13-27920238-G-A
gnomAD v4: 13-27920238-G-A
MyVariant Identifiers: chr13:g.28494375G>A (hg19) chr13:g.27920238G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920238G>A , CM000675.2:g.27920238G>A GRCh38
NC_000013.10:g.28494375G>A , CM000675.1:g.28494375G>A GRCh37
NC_000013.9:g.27392375G>A NCBI36
NG_008183.1:g.5208G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.100G>A (PDX1) MANE Select ENSP00000370421.4:p.Ala34Thr
ENST00000381033.4:c.100G>A (PDX1) ENSP00000370421.4:p.Ala34Thr
NM_000209.3:c.100G>A (PDX1) NP_000200.1:p.Ala34Thr
NR_047484.1:n.241+926C>T (PLUT)
XR_941578.1:n.245G>A (PDX1)
XR_941579.1:n.245G>A (PDX1)
XR_941580.1:n.245G>A (PDX1)
XR_941578.2:n.257G>A (PDX1)
XR_941580.2:n.257G>A (PDX1)
NM_000209.4:c.100G>A (PDX1) MANE Select NP_000200.1:p.Ala34Thr
Search 100 bp 5'
Search 100 bp 3'