Canonical Allele Identifier: CA6927587

Gene: PDX1 PLUT

Linked Data

• ClinVar Variation Id: 517723
• ClinVar RCV Id: RCV000615233 ; RCV000711998 ; RCV002404702
• dbSNP Id: rs530567443
• ExAC: 13:28494440 C / A
• gnomAD v2: 13-28494440-C-A
• gnomAD v3: 13-27920303-C-A
• gnomAD v4: 13-27920303-C-A
• MyVariant Identifiers: chr13:g.28494440C>A (hg19) ; chr13:g.27920303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920303C>A , CM000675.2:g.27920303C>A	GRCh38
NC_000013.10:g.28494440C>A , CM000675.1:g.28494440C>A	GRCh37
NC_000013.9:g.27392440C>A	NCBI36
NG_008183.1:g.5273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.165C>A (PDX1) MANE Select	ENSP00000370421.4:p.Gly55=
ENST00000381033.4:c.165C>A (PDX1)	ENSP00000370421.4:p.Gly55=
NM_000209.3:c.165C>A (PDX1)	NP_000200.1:p.Gly55=
NR_047484.1:n.241+861G>T (PLUT)
XR_941578.1:n.310C>A (PDX1)
XR_941579.1:n.310C>A (PDX1)
XR_941580.1:n.310C>A (PDX1)
XR_941578.2:n.322C>A (PDX1)
XR_941580.2:n.322C>A (PDX1)
NM_000209.4:c.165C>A (PDX1) MANE Select	NP_000200.1:p.Gly55=