Canonical Allele Identifier: CA247265584

Gene: PDX1

Linked Data

• dbSNP Id: rs918169516
• MyVariant Identifiers: chr13:g.28498729T>G (hg19) ; chr13:g.27924592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924592T>G , CM000675.2:g.27924592T>G	GRCh38
NC_000013.10:g.28498729T>G , CM000675.1:g.28498729T>G	GRCh37
NC_000013.9:g.27396729T>G	NCBI36
NG_008183.1:g.9562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.743T>G MANE Select	ENSP00000370421.4:p.Val248Gly
ENST00000381033.4:c.743T>G	ENSP00000370421.4:p.Val248Gly
NM_000209.3:c.743T>G	NP_000200.1:p.Val248Gly
NM_000209.4:c.743T>G MANE Select	NP_000200.1:p.Val248Gly