Canonical Allele Identifier: CA387646773
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1301418941
gnomAD v3: 13-27924647-C-A
gnomAD v4: 13-27924647-C-A
COSMIC: COSM5749057
MyVariant Identifiers: chr13:g.28498784C>A (hg19) chr13:g.27924647C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924647C>A , CM000675.2:g.27924647C>A GRCh38
NC_000013.10:g.28498784C>A , CM000675.1:g.28498784C>A GRCh37
NC_000013.9:g.27396784C>A NCBI36
NG_008183.1:g.9617C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.798C>A MANE Select ENSP00000370421.4:p.Ser266Arg
ENST00000381033.4:c.798C>A ENSP00000370421.4:p.Ser266Arg
NM_000209.3:c.798C>A NP_000200.1:p.Ser266Arg
NM_000209.4:c.798C>A MANE Select NP_000200.1:p.Ser266Arg
Search 100 bp 5'
Search 100 bp 3'