Canonical Allele Identifier: CA247265186
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs937640730
gnomAD v2: 13-28498378-C-G
gnomAD v4: 13-27924241-C-G
MyVariant Identifiers: chr13:g.28498378C>G (hg19) chr13:g.27924241C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924241C>G , CM000675.2:g.27924241C>G GRCh38
NC_000013.10:g.28498378C>G , CM000675.1:g.28498378C>G GRCh37
NC_000013.9:g.27396378C>G NCBI36
NG_008183.1:g.9211C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.407-15C>G MANE Select ENSP00000370421.4:n.407-15C>G
ENST00000381033.4:c.407-15C>G ENSP00000370421.4:n.407-15C>G
NM_000209.3:c.407-15C>G NP_000200.1:n.407-15C>G
XR_941578.1:n.3534-15C>G
XR_941579.1:n.2133-15C>G
XR_941580.1:n.1049-15C>G
XR_941578.2:n.3546-15C>G
XR_941580.2:n.1061-15C>G
NM_000209.4:c.407-15C>G MANE Select NP_000200.1:n.407-15C>G
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