Canonical Allele Identifier: CA2622478393
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924731-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924731T>C , CM000675.2:g.27924731T>C GRCh38
NC_000013.10:g.28498868T>C , CM000675.1:g.28498868T>C GRCh37
NC_000013.9:g.27396868T>C NCBI36
NG_008183.1:g.9701T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*30T>C MANE Select ENSP00000370421.4:n.*30T>C
ENST00000381033.4:c.*30T>C ENSP00000370421.4:n.*30T>C
NM_000209.3:c.*30T>C NP_000200.1:n.*30T>C
NM_000209.4:c.*30T>C MANE Select NP_000200.1:n.*30T>C
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