Canonical Allele Identifier: CA387646199
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924489G>A , CM000675.2:g.27924489G>A GRCh38
NC_000013.10:g.28498626G>A , CM000675.1:g.28498626G>A GRCh37
NC_000013.9:g.27396626G>A NCBI36
NG_008183.1:g.9459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.640G>A MANE Select ENSP00000370421.4:p.Ala214Thr
ENST00000381033.4:c.640G>A ENSP00000370421.4:p.Ala214Thr
NM_000209.3:c.640G>A NP_000200.1:p.Ala214Thr
NM_000209.4:c.640G>A MANE Select NP_000200.1:p.Ala214Thr