Canonical Allele Identifier: CA247265189

Gene: PDX1

Linked Data

• dbSNP Id: rs994909337
• gnomAD v2: 13-28498379-T-G
• gnomAD v3: 13-27924242-T-G
• gnomAD v4: 13-27924242-T-G
• MyVariant Identifiers: chr13:g.28498379T>G (hg19) ; chr13:g.27924242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924242T>G , CM000675.2:g.27924242T>G	GRCh38
NC_000013.10:g.28498379T>G , CM000675.1:g.28498379T>G	GRCh37
NC_000013.9:g.27396379T>G	NCBI36
NG_008183.1:g.9212T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381033.5:c.407-14T>G MANE Select	ENSP00000370421.4:n.407-14T>G
ENST00000381033.4:c.407-14T>G	ENSP00000370421.4:n.407-14T>G
NM_000209.3:c.407-14T>G	NP_000200.1:n.407-14T>G
XR_941578.1:n.3534-14T>G
XR_941579.1:n.2133-14T>G
XR_941580.1:n.1049-14T>G
XR_941578.2:n.3546-14T>G
XR_941580.2:n.1061-14T>G
NM_000209.4:c.407-14T>G MANE Select	NP_000200.1:n.407-14T>G