Canonical Allele Identifier: CA325635
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27920190T>C
GRCh37 chr13:g.28494327T>C
Revel Score:
ENST00000381033 (MANE Select) 0.896
gnomAD v2:
13:28494327 T / C
gnomAD v3:
13:27920190 T / C
gnomAD v4:
chr13-27920190-T-C
Joint Max Group AF 0.00026269 (NFE)
Genomes Max Group AF 0.000135 (NFE)
Exomes Max Group AF 0.00026623 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920190T>C , CM000675.2:g.27920190T>C GRCh38
NC_000013.10:g.28494327T>C , CM000675.1:g.28494327T>C GRCh37
NC_000013.9:g.27392327T>C NCBI36
NG_008183.1:g.5160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.52T>C (PDX1) MANE Select ENSP00000370421.4:p.Cys18Arg
ENST00000381033.4:c.52T>C (PDX1) ENSP00000370421.4:p.Cys18Arg
NM_000209.3:c.52T>C (PDX1) NP_000200.1:p.Cys18Arg
NR_047484.1:n.241+974A>G (PLUT)
XR_941578.1:n.197T>C (PDX1)
XR_941579.1:n.197T>C (PDX1)
XR_941580.1:n.197T>C (PDX1)
XR_941578.2:n.209T>C (PDX1)
XR_941580.2:n.209T>C (PDX1)
NM_000209.4:c.52T>C (PDX1) MANE Select NP_000200.1:p.Cys18Arg
Search 100 bp 5'
Search 100 bp 3'