Canonical Allele Identifier: CA387645665
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924396-T-A
MyVariant Identifiers: chr13:g.28498533T>A (hg19) chr13:g.27924396T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924396T>A , CM000675.2:g.27924396T>A GRCh38
NC_000013.10:g.28498533T>A , CM000675.1:g.28498533T>A GRCh37
NC_000013.9:g.27396533T>A NCBI36
NG_008183.1:g.9366T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.547T>A MANE Select ENSP00000370421.4:p.Leu183Met
ENST00000381033.4:c.547T>A ENSP00000370421.4:p.Leu183Met
NM_000209.3:c.547T>A NP_000200.1:p.Leu183Met
NM_000209.4:c.547T>A MANE Select NP_000200.1:p.Leu183Met
Search 100 bp 5'
Search 100 bp 3'