Canonical Allele Identifier: CA387646812
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924657-C-G
MyVariant Identifiers: chr13:g.28498794C>G (hg19) chr13:g.27924657C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924657C>G , CM000675.2:g.27924657C>G GRCh38
NC_000013.10:g.28498794C>G , CM000675.1:g.28498794C>G GRCh37
NC_000013.9:g.27396794C>G NCBI36
NG_008183.1:g.9627C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.808C>G MANE Select ENSP00000370421.4:p.Gln270Glu
ENST00000381033.4:c.808C>G ENSP00000370421.4:p.Gln270Glu
NM_000209.3:c.808C>G NP_000200.1:p.Gln270Glu
NM_000209.4:c.808C>G MANE Select NP_000200.1:p.Gln270Glu
Search 100 bp 5'
Search 100 bp 3'