Canonical Allele Identifier: CA387646548
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924588-G-A
MyVariant Identifiers: chr13:g.28498725G>A (hg19) chr13:g.27924588G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924588G>A , CM000675.2:g.27924588G>A GRCh38
NC_000013.10:g.28498725G>A , CM000675.1:g.28498725G>A GRCh37
NC_000013.9:g.27396725G>A NCBI36
NG_008183.1:g.9558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.739G>A MANE Select ENSP00000370421.4:p.Ala247Thr
ENST00000381033.4:c.739G>A ENSP00000370421.4:p.Ala247Thr
NM_000209.3:c.739G>A NP_000200.1:p.Ala247Thr
NM_000209.4:c.739G>A MANE Select NP_000200.1:p.Ala247Thr
Search 100 bp 5'
Search 100 bp 3'