Canonical Allele Identifier: CA387645461
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 436282
ClinVar RCV Id: RCV000501202
dbSNP Id: rs1555241857
MyVariant Identifiers: chr13:g.28498488A>C (hg19) chr13:g.27924351A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924351A>C , CM000675.2:g.27924351A>C GRCh38
NC_000013.10:g.28498488A>C , CM000675.1:g.28498488A>C GRCh37
NC_000013.9:g.27396488A>C NCBI36
NG_008183.1:g.9321A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.502A>C MANE Select ENSP00000370421.4:p.Asn168His
ENST00000381033.4:c.502A>C ENSP00000370421.4:p.Asn168His
NM_000209.3:c.502A>C NP_000200.1:p.Asn168His
NM_000209.4:c.502A>C MANE Select NP_000200.1:p.Asn168His
Search 100 bp 5'
Search 100 bp 3'