Canonical Allele Identifier: CA483175531
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924263-C-A
MyVariant Identifiers: chr13:g.28498400C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924263C>A , CM000675.2:g.27924263C>A GRCh38
NC_000013.10:g.28498400C>A , CM000675.1:g.28498400C>A GRCh37
NC_000013.9:g.27396400C>A NCBI36
NG_008183.1:g.9233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.414C>A MANE Select ENSP00000370421.4:p.Ala138=
ENST00000381033.4:c.414C>A ENSP00000370421.4:p.Ala138=
NM_000209.3:c.414C>A NP_000200.1:p.Ala138=
XR_941578.1:n.3541C>A
XR_941579.1:n.2140C>A
XR_941580.1:n.1056C>A
XR_941578.2:n.3553C>A
XR_941580.2:n.1068C>A
NM_000209.4:c.414C>A MANE Select NP_000200.1:p.Ala138=
Search 100 bp 5'
Search 100 bp 3'