Canonical Allele Identifier: CA387645650
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924393-A-T
MyVariant Identifiers: chr13:g.28498530A>T (hg19) chr13:g.27924393A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924393A>T , CM000675.2:g.27924393A>T GRCh38
NC_000013.10:g.28498530A>T , CM000675.1:g.28498530A>T GRCh37
NC_000013.9:g.27396530A>T NCBI36
NG_008183.1:g.9363A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.544A>T MANE Select ENSP00000370421.4:p.Met182Leu
ENST00000381033.4:c.544A>T ENSP00000370421.4:p.Met182Leu
NM_000209.3:c.544A>T NP_000200.1:p.Met182Leu
NM_000209.4:c.544A>T MANE Select NP_000200.1:p.Met182Leu
Search 100 bp 5'
Search 100 bp 3'