Canonical Allele Identifier: CA6927712

Gene: PDX1

Linked Data

• dbSNP Id: rs371525768
• ExAC: 13:28498683 G / T
• gnomAD v2: 13-28498683-G-T
• gnomAD v3: 13-27924546-G-T
• gnomAD v4: 13-27924546-G-T
• MyVariant Identifiers: chr13:g.28498683G>T (hg19) ; chr13:g.27924546G>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924546G>T , CM000675.2:g.27924546G>T	GRCh38
NC_000013.10:g.28498683G>T , CM000675.1:g.28498683G>T	GRCh37
NC_000013.9:g.27396683G>T	NCBI36
NG_008183.1:g.9516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.697G>T MANE Select	ENSP00000370421.4:p.Glu233Ter
ENST00000381033.4:c.697G>T	ENSP00000370421.4:p.Glu233Ter
NM_000209.3:c.697G>T	NP_000200.1:p.Glu233Ter
NM_000209.4:c.697G>T MANE Select	NP_000200.1:p.Glu233Ter