Canonical Allele Identifier: CA387646306
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs747825143
gnomAD v3: 13-27924516-C-A
gnomAD v4: 13-27924516-C-A
MyVariant Identifiers: chr13:g.28498653C>A (hg19) chr13:g.27924516C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924516C>A , CM000675.2:g.27924516C>A GRCh38
NC_000013.10:g.28498653C>A , CM000675.1:g.28498653C>A GRCh37
NC_000013.9:g.27396653C>A NCBI36
NG_008183.1:g.9486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.667C>A MANE Select ENSP00000370421.4:p.Pro223Thr
ENST00000381033.4:c.667C>A ENSP00000370421.4:p.Pro223Thr
NM_000209.3:c.667C>A NP_000200.1:p.Pro223Thr
NM_000209.4:c.667C>A MANE Select NP_000200.1:p.Pro223Thr
Search 100 bp 5'
Search 100 bp 3'