Canonical Allele Identifier: CA247265741
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs532113600
gnomAD v2: 13-28498948-G-T
gnomAD v3: 13-27924811-G-T
gnomAD v4: 13-27924811-G-T
MyVariant Identifiers: chr13:g.28498948G>T (hg19) chr13:g.27924811G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924811G>T , CM000675.2:g.27924811G>T GRCh38
NC_000013.10:g.28498948G>T , CM000675.1:g.28498948G>T GRCh37
NC_000013.9:g.27396948G>T NCBI36
NG_008183.1:g.9781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*110G>T MANE Select ENSP00000370421.4:n.*110G>T
ENST00000381033.4:c.*110G>T ENSP00000370421.4:n.*110G>T
NM_000209.3:c.*110G>T NP_000200.1:n.*110G>T
NM_000209.4:c.*110G>T MANE Select NP_000200.1:n.*110G>T
Search 100 bp 5'
Search 100 bp 3'