Canonical Allele Identifier: CA387645440
Gene: PDX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.28498482C>A (hg19) chr13:g.27924345C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924345C>A , CM000675.2:g.27924345C>A GRCh38
NC_000013.10:g.28498482C>A , CM000675.1:g.28498482C>A GRCh37
NC_000013.9:g.27396482C>A NCBI36
NG_008183.1:g.9315C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.496C>A MANE Select ENSP00000370421.4:p.Leu166Ile
ENST00000381033.4:c.496C>A ENSP00000370421.4:p.Leu166Ile
NM_000209.3:c.496C>A NP_000200.1:p.Leu166Ile
NM_000209.4:c.496C>A MANE Select NP_000200.1:p.Leu166Ile
Search 100 bp 5'
Search 100 bp 3'