Canonical Allele Identifier: CA387645758
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924412-G-A
MyVariant Identifiers: chr13:g.28498549G>A (hg19) chr13:g.27924412G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924412G>A , CM000675.2:g.27924412G>A GRCh38
NC_000013.10:g.28498549G>A , CM000675.1:g.28498549G>A GRCh37
NC_000013.9:g.27396549G>A NCBI36
NG_008183.1:g.9382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.563G>A MANE Select ENSP00000370421.4:p.Arg188Lys
ENST00000381033.4:c.563G>A ENSP00000370421.4:p.Arg188Lys
NM_000209.3:c.563G>A NP_000200.1:p.Arg188Lys
NM_000209.4:c.563G>A MANE Select NP_000200.1:p.Arg188Lys
Search 100 bp 5'
Search 100 bp 3'