Canonical Allele Identifier: CA387645444
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924346T>G , CM000675.2:g.27924346T>G GRCh38
NC_000013.10:g.28498483T>G , CM000675.1:g.28498483T>G GRCh37
NC_000013.9:g.27396483T>G NCBI36
NG_008183.1:g.9316T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.497T>G MANE Select ENSP00000370421.4:p.Leu166Arg
ENST00000381033.4:c.497T>G ENSP00000370421.4:p.Leu166Arg
NM_000209.3:c.497T>G NP_000200.1:p.Leu166Arg
NM_000209.4:c.497T>G MANE Select NP_000200.1:p.Leu166Arg