Canonical Allele Identifier: CA483175602
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1957808693
gnomAD v3: 13-27924311-G-A
gnomAD v4: 13-27924311-G-A
MyVariant Identifiers: chr13:g.28498448G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924311G>A , CM000675.2:g.27924311G>A GRCh38
NC_000013.10:g.28498448G>A , CM000675.1:g.28498448G>A GRCh37
NC_000013.9:g.27396448G>A NCBI36
NG_008183.1:g.9281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.462G>A MANE Select ENSP00000370421.4:p.Thr154=
ENST00000381033.4:c.462G>A ENSP00000370421.4:p.Thr154=
NM_000209.3:c.462G>A NP_000200.1:p.Thr154=
XR_941579.1:n.2188G>A
XR_941580.1:n.1104G>A
XR_941580.2:n.1116G>A
NM_000209.4:c.462G>A MANE Select NP_000200.1:p.Thr154=
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