Canonical Allele Identifier: CA247265659
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1056035961
gnomAD v3: 13-27924688-A-G
gnomAD v4: 13-27924688-A-G
MyVariant Identifiers: chr13:g.28498825A>G (hg19) chr13:g.27924688A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924688A>G , CM000675.2:g.27924688A>G GRCh38
NC_000013.10:g.28498825A>G , CM000675.1:g.28498825A>G GRCh37
NC_000013.9:g.27396825A>G NCBI36
NG_008183.1:g.9658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.839A>G MANE Select ENSP00000370421.4:p.Gln280Arg
ENST00000381033.4:c.839A>G ENSP00000370421.4:p.Gln280Arg
NM_000209.3:c.839A>G NP_000200.1:p.Gln280Arg
NM_000209.4:c.839A>G MANE Select NP_000200.1:p.Gln280Arg
Search 100 bp 5'
Search 100 bp 3'