Canonical Allele Identifier: CA6927580
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27920235C>T
GRCh37 chr13:g.28494372C>T
Revel Score:
ENST00000381033 (MANE Select) 0.760
gnomAD v2:
13:28494372 C / T
gnomAD v3:
13:27920235 C / T
gnomAD v4:
chr13-27920235-C-T
Joint Max Group AF 0.00013973 (MID)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00014718 (MID)
ClinVar RCV:
RCV002573844
RCV003331374
ClinVar Variation:
1898245
dbSNP:
192902098
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920235C>T , CM000675.2:g.27920235C>T GRCh38
NC_000013.10:g.28494372C>T , CM000675.1:g.28494372C>T GRCh37
NC_000013.9:g.27392372C>T NCBI36
NG_008183.1:g.5205C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.97C>T (PDX1) MANE Select ENSP00000370421.4:p.Pro33Ser
ENST00000381033.4:c.97C>T (PDX1) ENSP00000370421.4:p.Pro33Ser
NM_000209.3:c.97C>T (PDX1) NP_000200.1:p.Pro33Ser
NR_047484.1:n.241+929G>A (PLUT)
XR_941578.1:n.242C>T (PDX1)
XR_941579.1:n.242C>T (PDX1)
XR_941580.1:n.242C>T (PDX1)
XR_941578.2:n.254C>T (PDX1)
XR_941580.2:n.254C>T (PDX1)
NM_000209.4:c.97C>T (PDX1) MANE Select NP_000200.1:p.Pro33Ser
Search 100 bp 5'
Search 100 bp 3'