Canonical Allele Identifier: CA483027007
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762269
ClinVar RCV Id: RCV002421474
dbSNP Id: rs1256159743
gnomAD v2: 13-28498802-C-T
gnomAD v3: 13-27924665-C-T
gnomAD v4: 13-27924665-C-T
MyVariant Identifiers: chr13:g.28498802C>T (hg19) chr13:g.27924665C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924665C>T , CM000675.2:g.27924665C>T GRCh38
NC_000013.10:g.28498802C>T , CM000675.1:g.28498802C>T GRCh37
NC_000013.9:g.27396802C>T NCBI36
NG_008183.1:g.9635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.816C>T MANE Select ENSP00000370421.4:p.Ser272=
ENST00000381033.4:c.816C>T ENSP00000370421.4:p.Ser272=
NM_000209.3:c.816C>T NP_000200.1:p.Ser272=
NM_000209.4:c.816C>T MANE Select NP_000200.1:p.Ser272=
Search 100 bp 5'
Search 100 bp 3'