Canonical Allele Identifier: CA483027016
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs926396364
gnomAD v3: 13-27924677-T-A
gnomAD v4: 13-27924677-T-A
MyVariant Identifiers: chr13:g.28498814T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924677T>A , CM000675.2:g.27924677T>A GRCh38
NC_000013.10:g.28498814T>A , CM000675.1:g.28498814T>A GRCh37
NC_000013.9:g.27396814T>A NCBI36
NG_008183.1:g.9647T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.828T>A MANE Select ENSP00000370421.4:p.Pro276=
ENST00000381033.4:c.828T>A ENSP00000370421.4:p.Pro276=
NM_000209.3:c.828T>A NP_000200.1:p.Pro276=
NM_000209.4:c.828T>A MANE Select NP_000200.1:p.Pro276=
Search 100 bp 5'
Search 100 bp 3'