Canonical Allele Identifier: CA6927726
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 668654
ClinVar RCV Id: RCV000827595 RCV001664447
dbSNP Id: rs754817283
ExAC: 13:28498834 G / A
gnomAD v2: 13-28498834-G-A
gnomAD v3: 13-27924697-G-A
gnomAD v4: 13-27924697-G-A
MyVariant Identifiers: chr13:g.28498834G>A (hg19) chr13:g.27924697G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924697G>A , CM000675.2:g.27924697G>A GRCh38
NC_000013.10:g.28498834G>A , CM000675.1:g.28498834G>A GRCh37
NC_000013.9:g.27396834G>A NCBI36
NG_008183.1:g.9667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.848G>A MANE Select ENSP00000370421.4:p.Arg283Gln
ENST00000381033.4:c.848G>A ENSP00000370421.4:p.Arg283Gln
NM_000209.3:c.848G>A NP_000200.1:p.Arg283Gln
NM_000209.4:c.848G>A MANE Select NP_000200.1:p.Arg283Gln
Search 100 bp 5'
Search 100 bp 3'