Canonical Allele Identifier: CA247265719
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1040058277
gnomAD v4: 13-27924742-G-C
MyVariant Identifiers: chr13:g.28498879G>C (hg19) chr13:g.27924742G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924742G>C , CM000675.2:g.27924742G>C GRCh38
NC_000013.10:g.28498879G>C , CM000675.1:g.28498879G>C GRCh37
NC_000013.9:g.27396879G>C NCBI36
NG_008183.1:g.9712G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*41G>C MANE Select ENSP00000370421.4:n.*41G>C
ENST00000381033.4:c.*41G>C ENSP00000370421.4:n.*41G>C
NM_000209.3:c.*41G>C NP_000200.1:n.*41G>C
NM_000209.4:c.*41G>C MANE Select NP_000200.1:n.*41G>C
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