Canonical Allele Identifier: CA387644277

Gene: PDX1 PLUT

Linked Data

• dbSNP Id: rs1383050095
• gnomAD v4: 13-27920325-C-G
• MyVariant Identifiers: chr13:g.28494462C>G (hg19) ; chr13:g.27920325C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920325C>G , CM000675.2:g.27920325C>G	GRCh38
NC_000013.10:g.28494462C>G , CM000675.1:g.28494462C>G	GRCh37
NC_000013.9:g.27392462C>G	NCBI36
NG_008183.1:g.5295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.187C>G (PDX1) MANE Select	ENSP00000370421.4:p.Pro63Ala
ENST00000381033.4:c.187C>G (PDX1)	ENSP00000370421.4:p.Pro63Ala
NM_000209.3:c.187C>G (PDX1)	NP_000200.1:p.Pro63Ala
NR_047484.1:n.241+839G>C (PLUT)
XR_941578.1:n.332C>G (PDX1)
XR_941579.1:n.332C>G (PDX1)
XR_941580.1:n.332C>G (PDX1)
XR_941578.2:n.344C>G (PDX1)
XR_941580.2:n.344C>G (PDX1)
NM_000209.4:c.187C>G (PDX1) MANE Select	NP_000200.1:p.Pro63Ala