Canonical Allele Identifier: CA247265737
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs569303756
gnomAD v2: 13-28498943-G-T
gnomAD v3: 13-27924806-G-T
gnomAD v4: 13-27924806-G-T
MyVariant Identifiers: chr13:g.28498943G>T (hg19) chr13:g.27924806G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924806G>T , CM000675.2:g.27924806G>T GRCh38
NC_000013.10:g.28498943G>T , CM000675.1:g.28498943G>T GRCh37
NC_000013.9:g.27396943G>T NCBI36
NG_008183.1:g.9776G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*105G>T MANE Select ENSP00000370421.4:n.*105G>T
ENST00000381033.4:c.*105G>T ENSP00000370421.4:n.*105G>T
NM_000209.3:c.*105G>T NP_000200.1:n.*105G>T
NM_000209.4:c.*105G>T MANE Select NP_000200.1:n.*105G>T
Search 100 bp 5'
Search 100 bp 3'