Canonical Allele Identifier: CA2622478627
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924813-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924813C>T , CM000675.2:g.27924813C>T GRCh38
NC_000013.10:g.28498950C>T , CM000675.1:g.28498950C>T GRCh37
NC_000013.9:g.27396950C>T NCBI36
NG_008183.1:g.9783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*112C>T MANE Select ENSP00000370421.4:n.*112C>T
ENST00000381033.4:c.*112C>T ENSP00000370421.4:n.*112C>T
NM_000209.3:c.*112C>T NP_000200.1:n.*112C>T
NM_000209.4:c.*112C>T MANE Select NP_000200.1:n.*112C>T
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