Canonical Allele Identifier: CA608987623
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs994909337
gnomAD v2: 13-28498379-T-C
gnomAD v4: 13-27924242-T-C
MyVariant Identifiers: chr13:g.28498379T>C (hg19) chr13:g.27924242T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924242T>C , CM000675.2:g.27924242T>C GRCh38
NC_000013.10:g.28498379T>C , CM000675.1:g.28498379T>C GRCh37
NC_000013.9:g.27396379T>C NCBI36
NG_008183.1:g.9212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.407-14T>C MANE Select ENSP00000370421.4:n.407-14T>C
ENST00000381033.4:c.407-14T>C ENSP00000370421.4:n.407-14T>C
NM_000209.3:c.407-14T>C NP_000200.1:n.407-14T>C
XR_941578.1:n.3534-14T>C
XR_941579.1:n.2133-14T>C
XR_941580.1:n.1049-14T>C
XR_941578.2:n.3546-14T>C
XR_941580.2:n.1061-14T>C
NM_000209.4:c.407-14T>C MANE Select NP_000200.1:n.407-14T>C
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