Canonical Allele Identifier: CA387645435
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924343-T-A
MyVariant Identifiers: chr13:g.28498480T>A (hg19) chr13:g.27924343T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924343T>A , CM000675.2:g.27924343T>A GRCh38
NC_000013.10:g.28498480T>A , CM000675.1:g.28498480T>A GRCh37
NC_000013.9:g.27396480T>A NCBI36
NG_008183.1:g.9313T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.494T>A MANE Select ENSP00000370421.4:p.Phe165Tyr
ENST00000381033.4:c.494T>A ENSP00000370421.4:p.Phe165Tyr
NM_000209.3:c.494T>A NP_000200.1:p.Phe165Tyr
NM_000209.4:c.494T>A MANE Select NP_000200.1:p.Phe165Tyr
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