Canonical Allele Identifier: CA483175807
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924416-C-T
MyVariant Identifiers: chr13:g.28498553C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924416C>T , CM000675.2:g.27924416C>T GRCh38
NC_000013.10:g.28498553C>T , CM000675.1:g.28498553C>T GRCh37
NC_000013.9:g.27396553C>T NCBI36
NG_008183.1:g.9386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.567C>T MANE Select ENSP00000370421.4:p.His189=
ENST00000381033.4:c.567C>T ENSP00000370421.4:p.His189=
NM_000209.3:c.567C>T NP_000200.1:p.His189=
NM_000209.4:c.567C>T MANE Select NP_000200.1:p.His189=
Search 100 bp 5'
Search 100 bp 3'