Canonical Allele Identifier: CA387646755
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924642-C-T
MyVariant Identifiers: chr13:g.28498779C>T (hg19) chr13:g.27924642C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924642C>T , CM000675.2:g.27924642C>T GRCh38
NC_000013.10:g.28498779C>T , CM000675.1:g.28498779C>T GRCh37
NC_000013.9:g.27396779C>T NCBI36
NG_008183.1:g.9612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.793C>T MANE Select ENSP00000370421.4:p.Leu265Phe
ENST00000381033.4:c.793C>T ENSP00000370421.4:p.Leu265Phe
NM_000209.3:c.793C>T NP_000200.1:p.Leu265Phe
NM_000209.4:c.793C>T MANE Select NP_000200.1:p.Leu265Phe
Search 100 bp 5'
Search 100 bp 3'