Canonical Allele Identifier: CA387645450
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1957809088
gnomAD v4: 13-27924348-T-C
MyVariant Identifiers: chr13:g.28498485T>C (hg19) chr13:g.27924348T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924348T>C , CM000675.2:g.27924348T>C GRCh38
NC_000013.10:g.28498485T>C , CM000675.1:g.28498485T>C GRCh37
NC_000013.9:g.27396485T>C NCBI36
NG_008183.1:g.9318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.499T>C MANE Select ENSP00000370421.4:p.Phe167Leu
ENST00000381033.4:c.499T>C ENSP00000370421.4:p.Phe167Leu
NM_000209.3:c.499T>C NP_000200.1:p.Phe167Leu
NM_000209.4:c.499T>C MANE Select NP_000200.1:p.Phe167Leu
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