Canonical Allele Identifier: CA387645646
Gene: PDX1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.544A>C MANE Select ENSP00000370421.4:p.Met182Leu
ENST00000381033.4:c.544A>C ENSP00000370421.4:p.Met182Leu
NM_000209.3:c.544A>C NP_000200.1:p.Met182Leu
NM_000209.4:c.544A>C MANE Select NP_000200.1:p.Met182Leu
Search 100 bp 5'
Search 100 bp 3'