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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:
CA387646111
Gene: PDX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1442259663
gnomAD v2:
13-28498604-C-A
gnomAD v3:
13-27924467-C-A
gnomAD v4:
13-27924467-C-A
MyVariant Identifiers:
chr13:g.28498604C>A (hg19)
chr13:g.27924467C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.27924467C>A , CM000675.2:g.27924467C>A
GRCh38
NC_000013.10:g.28498604C>A , CM000675.1:g.28498604C>A
GRCh37
NC_000013.9:g.27396604C>A
NCBI36
NG_008183.1:g.9437C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000381033.5:c.618C>A
MANE Select
ENSP00000370421.4:p.Asp206Glu
ENST00000381033.4:c.618C>A
ENSP00000370421.4:p.Asp206Glu
NM_000209.3:c.618C>A
NP_000200.1:p.Asp206Glu
NM_000209.4:c.618C>A
MANE Select
NP_000200.1:p.Asp206Glu
Search 100 bp 5'
Search 100 bp 3'