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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA128952
Gene: PDX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30124
ClinVar RCV Id:
RCV000023034
RCV000239365
RCV000502995
dbSNP Id:
rs387906777
MyVariant Identifiers:
chr13:g.28498519A>G (hg19)
chr13:g.27924382A>G (hg38)
PubMed:
PMID:12970316
PMID:20009086
PMID:20301620
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.27924382A>G , CM000675.2:g.27924382A>G
GRCh38
NC_000013.10:g.28498519A>G , CM000675.1:g.28498519A>G
GRCh37
NC_000013.9:g.27396519A>G
NCBI36
NG_008183.1:g.9352A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000381033.5:c.533A>G
MANE Select
ENSP00000370421.4:p.Glu178Gly
ENST00000381033.4:c.533A>G
ENSP00000370421.4:p.Glu178Gly
NM_000209.3:c.533A>G
NP_000200.1:p.Glu178Gly
NM_000209.4:c.533A>G
MANE Select
NP_000200.1:p.Glu178Gly
Search 100 bp 5'
Search 100 bp 3'