Canonical Allele Identifier: CA483175591

Gene: PDX1 PLUT

Linked Data

• gnomAD v4: 13-27920231-C-T
• MyVariant Identifiers: chr13:g.28494368C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920231C>T , CM000675.2:g.27920231C>T	GRCh38
NC_000013.10:g.28494368C>T , CM000675.1:g.28494368C>T	GRCh37
NC_000013.9:g.27392368C>T	NCBI36
NG_008183.1:g.5201C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381033.5:c.93C>T (PDX1) MANE Select	ENSP00000370421.4:p.Ser31=
ENST00000381033.4:c.93C>T (PDX1)	ENSP00000370421.4:p.Ser31=
NM_000209.3:c.93C>T (PDX1)	NP_000200.1:p.Ser31=
NR_047484.1:n.241+933G>A (PLUT)
XR_941578.1:n.238C>T (PDX1)
XR_941579.1:n.238C>T (PDX1)
XR_941580.1:n.238C>T (PDX1)
XR_941578.2:n.250C>T (PDX1)
XR_941580.2:n.250C>T (PDX1)
NM_000209.4:c.93C>T (PDX1) MANE Select	NP_000200.1:p.Ser31=