Canonical Allele Identifier: CA387645997
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924448A>C , CM000675.2:g.27924448A>C GRCh38
NC_000013.10:g.28498585A>C , CM000675.1:g.28498585A>C GRCh37
NC_000013.9:g.27396585A>C NCBI36
NG_008183.1:g.9418A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.599A>C MANE Select ENSP00000370421.4:p.Lys200Thr
ENST00000381033.4:c.599A>C ENSP00000370421.4:p.Lys200Thr
NM_000209.3:c.599A>C NP_000200.1:p.Lys200Thr
NM_000209.4:c.599A>C MANE Select NP_000200.1:p.Lys200Thr