Canonical Allele Identifier: CA325632
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27920364G>A
GRCh37 chr13:g.28494501G>A
Revel Score:
ENST00000381033 (MANE Select) 0.245
gnomAD v2:
13:28494501 G / A
gnomAD v3:
13:27920364 G / A
gnomAD v4:
chr13-27920364-G-A
Joint Max Group AF 0.00574785 (NFE)
Genomes Max Group AF 0.00445218 (NFE)
Exomes Max Group AF 0.0058052 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920364G>A , CM000675.2:g.27920364G>A GRCh38
NC_000013.10:g.28494501G>A , CM000675.1:g.28494501G>A GRCh37
NC_000013.9:g.27392501G>A NCBI36
NG_008183.1:g.5334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.226G>A (PDX1) MANE Select ENSP00000370421.4:p.Asp76Asn
ENST00000381033.4:c.226G>A (PDX1) ENSP00000370421.4:p.Asp76Asn
NM_000209.3:c.226G>A (PDX1) NP_000200.1:p.Asp76Asn
NR_047484.1:n.241+800C>T (PLUT)
XR_941578.1:n.371G>A (PDX1)
XR_941579.1:n.371G>A (PDX1)
XR_941580.1:n.371G>A (PDX1)
XR_941578.2:n.383G>A (PDX1)
XR_941580.2:n.383G>A (PDX1)
NM_000209.4:c.226G>A (PDX1) MANE Select NP_000200.1:p.Asp76Asn
Search 100 bp 5'
Search 100 bp 3'