Canonical Allele Identifier: CA387646976
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1446328103
gnomAD v2: 13-28498833-C-T
gnomAD v4: 13-27924696-C-T
MyVariant Identifiers: chr13:g.28498833C>T (hg19) chr13:g.27924696C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924696C>T , CM000675.2:g.27924696C>T GRCh38
NC_000013.10:g.28498833C>T , CM000675.1:g.28498833C>T GRCh37
NC_000013.9:g.27396833C>T NCBI36
NG_008183.1:g.9666C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.847C>T MANE Select ENSP00000370421.4:p.Arg283Ter
ENST00000381033.4:c.847C>T ENSP00000370421.4:p.Arg283Ter
NM_000209.3:c.847C>T NP_000200.1:p.Arg283Ter
NM_000209.4:c.847C>T MANE Select NP_000200.1:p.Arg283Ter
Search 100 bp 5'
Search 100 bp 3'