Canonical Allele Identifier: CA2080721489
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1433082270
gnomAD v4: 13-27924837-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924837G>C , CM000675.2:g.27924837G>C GRCh38
NC_000013.10:g.28498974G>C , CM000675.1:g.28498974G>C GRCh37
NC_000013.9:g.27396974G>C NCBI36
NG_008183.1:g.9807G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*136G>C MANE Select ENSP00000370421.4:n.*136G>C
ENST00000381033.4:c.*136G>C ENSP00000370421.4:n.*136G>C
NM_000209.3:c.*136G>C NP_000200.1:n.*136G>C
NM_000209.4:c.*136G>C MANE Select NP_000200.1:n.*136G>C
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