Canonical Allele Identifier: CA483026953
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1308083297
gnomAD v2: 13-28498742-C-A
gnomAD v4: 13-27924605-C-A
MyVariant Identifiers: chr13:g.28498742C>A (hg19) chr13:g.27924605C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924605C>A , CM000675.2:g.27924605C>A GRCh38
NC_000013.10:g.28498742C>A , CM000675.1:g.28498742C>A GRCh37
NC_000013.9:g.27396742C>A NCBI36
NG_008183.1:g.9575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.756C>A MANE Select ENSP00000370421.4:p.Ala252=
ENST00000381033.4:c.756C>A ENSP00000370421.4:p.Ala252=
NM_000209.3:c.756C>A NP_000200.1:p.Ala252=
NM_000209.4:c.756C>A MANE Select NP_000200.1:p.Ala252=
Search 100 bp 5'
Search 100 bp 3'