Canonical Allele Identifier: CA214073
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36409
ClinVar RCV Id: RCV000030081
dbSNP Id: rs193922356

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924420A>C , CM000675.2:g.27924420A>C GRCh38
NC_000013.10:g.28498557A>C , CM000675.1:g.28498557A>C GRCh37
NC_000013.9:g.27396557A>C NCBI36
NG_008183.1:g.9390A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.571A>C MANE Select ENSP00000370421.4:p.Lys191Gln
ENST00000381033.4:c.571A>C ENSP00000370421.4:p.Lys191Gln
NM_000209.3:c.571A>C NP_000200.1:p.Lys191Gln
NM_000209.4:c.571A>C MANE Select NP_000200.1:p.Lys191Gln