Canonical Allele Identifier: CA247265650
Community Standard Title: NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
Gene: PDX1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924669G>T , CM000675.2:g.27924669G>T GRCh38
NC_000013.10:g.28498806G>T , CM000675.1:g.28498806G>T GRCh37
NC_000013.9:g.27396806G>T NCBI36
NG_008183.1:g.9639G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000209.4:c.820G>T MANE Select NP_000200.1:p.Val274Phe
ENST00000381033.5:c.820G>T MANE Select ENSP00000370421.4:p.Val274Phe
NM_000209.3:c.820G>T NP_000200.1:p.Val274Phe
ENST00000381033.4:c.820G>T ENSP00000370421.4:p.Val274Phe
Search 100 bp 5'
Search 100 bp 3'