Canonical Allele Identifier: CA387645421
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506152
ClinVar RCV Id: RCV004548508

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924337A>G , CM000675.2:g.27924337A>G GRCh38
NC_000013.10:g.28498474A>G , CM000675.1:g.28498474A>G GRCh37
NC_000013.9:g.27396474A>G NCBI36
NG_008183.1:g.9307A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.488A>G MANE Select ENSP00000370421.4:p.Lys163Arg
ENST00000381033.4:c.488A>G ENSP00000370421.4:p.Lys163Arg
NM_000209.3:c.488A>G NP_000200.1:p.Lys163Arg
NM_000209.4:c.488A>G MANE Select NP_000200.1:p.Lys163Arg