Canonical Allele Identifier: CA954374532
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1215205647
gnomAD v3: 13-27924722-C-G
gnomAD v4: 13-27924722-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924722C>G , CM000675.2:g.27924722C>G GRCh38
NC_000013.10:g.28498859C>G , CM000675.1:g.28498859C>G GRCh37
NC_000013.9:g.27396859C>G NCBI36
NG_008183.1:g.9692C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*21C>G MANE Select ENSP00000370421.4:n.*21C>G
ENST00000381033.4:c.*21C>G ENSP00000370421.4:n.*21C>G
NM_000209.3:c.*21C>G NP_000200.1:n.*21C>G
NM_000209.4:c.*21C>G MANE Select NP_000200.1:n.*21C>G
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