Canonical Allele Identifier: CA387645605
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2789212
ClinVar RCV Id: RCV003666735
dbSNP Id: rs1957809431
gnomAD v3: 13-27924383-G-T
gnomAD v4: 13-27924383-G-T
MyVariant Identifiers: chr13:g.28498520G>T (hg19) chr13:g.27924383G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924383G>T , CM000675.2:g.27924383G>T GRCh38
NC_000013.10:g.28498520G>T , CM000675.1:g.28498520G>T GRCh37
NC_000013.9:g.27396520G>T NCBI36
NG_008183.1:g.9353G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.534G>T MANE Select ENSP00000370421.4:p.Glu178Asp
ENST00000381033.4:c.534G>T ENSP00000370421.4:p.Glu178Asp
NM_000209.3:c.534G>T NP_000200.1:p.Glu178Asp
NM_000209.4:c.534G>T MANE Select NP_000200.1:p.Glu178Asp
Search 100 bp 5'
Search 100 bp 3'