Canonical Allele Identifier: CA608741270
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1387407207
gnomAD v2: 13-28498942-T-G
gnomAD v3: 13-27924805-T-G
gnomAD v4: 13-27924805-T-G
MyVariant Identifiers: chr13:g.28498942T>G (hg19) chr13:g.27924805T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924805T>G , CM000675.2:g.27924805T>G GRCh38
NC_000013.10:g.28498942T>G , CM000675.1:g.28498942T>G GRCh37
NC_000013.9:g.27396942T>G NCBI36
NG_008183.1:g.9775T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*104T>G MANE Select ENSP00000370421.4:n.*104T>G
ENST00000381033.4:c.*104T>G ENSP00000370421.4:n.*104T>G
NM_000209.3:c.*104T>G NP_000200.1:n.*104T>G
NM_000209.4:c.*104T>G MANE Select NP_000200.1:n.*104T>G
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